Directly transmitted unbalanced chromosome abnormalities and euchromatic variants

Journal of Medical Genetics

Volumn 42, Issue 8, 2005, Pages 609-629

  Barber, J C K ^a,b  

^a SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^b UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL INHERITANCE; AUTOSOME ABERRATION; CHROMOSOME 10P; CHROMOSOME 10Q; CHROMOSOME 11Q; CHROMOSOME 13Q; CHROMOSOME 14Q; CHROMOSOME 15Q; CHROMOSOME 16P; CHROMOSOME 16Q; CHROMOSOME 18Q; CHROMOSOME 1P; CHROMOSOME 1Q; CHROMOSOME 21Q; CHROMOSOME 22Q; CHROMOSOME 2P; CHROMOSOME 2Q; CHROMOSOME 3P; CHROMOSOME 3Q; CHROMOSOME 4Q; CHROMOSOME 5P; CHROMOSOME 5Q; CHROMOSOME 6Q; CHROMOSOME 8P; CHROMOSOME 8Q; CHROMOSOME 9P; CHROMOSOME 9Q; CHROMOSOME ABERRATION; CYTOGENETICS; DNA POLYMORPHISM; EUCHROMATIN; GENE DELETION; GENE DUPLICATION; GENE SEQUENCE; GENETIC LINKAGE; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE DETECTION; HUMAN; INHERITANCE; PARALOGY; PHENOTYPE; POPULATION GENETICS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PSEUDOGENE; REVIEW;

CHROMOSOME ABERRATIONS; EUCHROMATIN; FEMALE; HUMANS; INHERITANCE PATTERNS; MALE; PHENOTYPE;

EID: 23744487028     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2004.026955     Document Type: Review

References (210)

1. Barber JCK, Thomas NS, Collinson MN, Dennis NR, Liehr T, Weise A, Belitz B, Pfeiffer L, Kirchhoff M, Krag-Olsen B, Lundsteen C. Segmental haplosufficiency; transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences. Eur J Hum Genet 2005;13:283-91.
2. Sumption ND, Barber JCK. Transmitted deletion of 2q13 to 2q14.1 causes no phenotypic abnormalities. J Med Genet 2001;38:125-6.
3. Knight LA, Yong MH, Tan M, Ng ISL. Del(3)(p25.3) without phenotypic effect. J Med Genet 1993;30:613.
4. Overhauser J, Golbus MS, Schonberg SA, Wasmuth JJ. Molecular analysis of an unbalanced deletion of the short arm of chromosome 5 that produces no phenotype. Am J Hum Genet 1986;39:1-10.
5. Reddy KS. A paternally inherited terminal deletion, del(8)(p23.1)pat, detected prenatally in an amniotic fluid sample: a review of deletion 8p23.1 cases. Prenat Diagn 1999;19:868-72.
6. Batanian JR, Morris K, Ma E, Huang Y, McComb J. Familial deletion of (8)(q24.13q24.22) associated with a normal phenotype. Clin Genet 2001;60:371-3.
7. Pelly D, Barnes I. Deletion of 9p in three generations without apparent phenotypic effect. J Med Genet 1992;29:210.
8. Barber JCK, Mahl H, Portch J, Crawfurd MD'A. Interstitial deletions without phenotypic effect: prenatal diagnosis of a new family and brief review. Prenat Diagn 1991;11:411-16.
9. Couturier J, Morichon-Delvallez N, Dutrillaux B. Deletion of band 13q21 is compatible with normal phenotype. Hum Genet 1985;70:87-91.
10. Hand JL, Michels W, Marinello MJ, Ketterling RP, Jalal SM. Inherited interstitial deletion of chromosomes 5p and 16q without apparent phenotypic effect: further confirmation. Prenat Diagn 2000;20:144-8.
11. Witt DR, Lew SP, Mann J. Heritable deletion of band 16q21 with normal phenotype: relationship to late replicating DNA. Am J Hum Genet 1988;43(suppl):A127.
12. Millard M, Roman D, Weber C, Wobser J, Moore J. Chromosome abnormalities and variants with no apparent clinical significance. J Assoc Genet Technol 1998;24:A151.
13. Zaslav AL, Blumenthal D, Fox JE, Thomson KA, Segraves R, Weinstein ME. A rare inherited euchromatic heteromorphism on chromosome 1. Prenat Diag 1993;13:569-73.
14. Engelen JJM, Moog U, Evers JLH, Dassen H, Albrechts JCM, Hamers AJH. Duplication of 8p23.1→p23.2: A Benign Variant.? Am J Med Genet 2000;91:18-21.
15. Chan S, Dill FJ, Langlois S, Pantzar JT, Lomax B, Rajcan-Separovic E. Segregation of a novel euchromatic expansion of 8p22 in three generations with no associated phenotypic abnormalities. Am J Hum Genet 2003;73(suppl):316.
16. Saxe D, Coleman L, Miley D, Yearall A, Sanders T, May K. Familial case of duplication 10p without phenotypic effect. Am J Hum Genet 2003;7(suppl):308.
17. Liehr T, Schreyer I, Neumann A, Beensen V, Ziegler M, Hartmann I, Starke H, Heller A, Nietzel A, Claussen U. Two more possible pitfalls of rapid prenatal diagnostics using interphase nuclei. Prenat Diagn 2002;22:497-9.
18. Wolff DJ, Raffel LJ, Ferre MM, Schwartz S. Prenatal ascertainment of an inherited dup(18p) associated with an apparently normal phenotype. Am J Med Genet 1991;41:319-21.
19. Carr DM, Moore H, Beurkdzhyan T. Unbalanced chromosome number one in normal progeny and carrier father. Am J Hum Genet 1988;43(suppl):A104.
20. Borgaonkar DS, Bias WB, Chase GA, Sadasivan G, Herr HM, Golomb HM, Bahr GF. Identification of a C6/G21 translocation chromosome by the Q-M and Giemsa banding techniques in a patient with Down's syndrome, with possible assignment of Gm locus. Clin Genet 1973;4:53-7.
21. Barber JCK. An investigation of euchromatic cytogenetic imbalances without phenotypic effect. PhD Thesis. Southampton: University of Southampton, 2000.
22. Gersh M, Goodart SA, Pasztor LM, Harris DJ, Weiss L, Overhauser J. Evidence for a distinct region causing a cat-like cry in patients with 5p deletions. Am J Hum Genet 1995;56:1404-10.
23. Johnson EI, Marinescu RC, Punnett HH, Tenenholz B, Overhauser J. 5p14 deletion associated with microcephaly and seizures. J Med Genet 2000;37:125-7.
24. Mascarello JT, Hubbard V. Routine use of methods for improved G-band resolution in a population of patients with malformations and developmental delay. Am J Med Genet 1991;38:37-42.
25. Li L, Moore P, Ngo C, Petrovic V, White SM, Northrop E, Ioannou PA, McKinlay Gardner RJ, Slater HR. Identification of a haplosufficient 3.6-Mb region in human chromosome 11q14.3->q21. Cytogenet Genome Res 2002;97:158-62.
26. Cowell JK, Rutland R, Hungerford J, Jay M. Deletion of chromosome region 13q14 is transmissible and does not always predispose to retinoblastoma. Hum Genet 1988;80:43-5.
27. Chan NP, Ng MH, Cheng SH, Lee V, Tsang KS, Lau TT, Li CK. Hereditary duplication or proximal chromosome 1q (q11q22) in a patient with T lymphoblastic lymphoma/leukaemia: a family study using G banding and comparative genomic hybridisation. J Med Genet 2002;39:e79.
28. Bortotto L, Piovan E, Furlan R, Rivera H, Zuffardi O. Chromosome imbalance, normal phenotype, and imprinting. J Med Genet 1990;27:582-7.
29. Fryburg JS, Shashi V, Kelly TE. Genomic imprinting as a probable explanation for variable intrafamilial phenotypic expression of an unusual chromosome 3 abnormality. Am J Hum Genet 1994;55(suppl):A104.
30. Maltby EL, Barnes ICS, Bennett CP. Duplication involving band 4q32 with minimal clinical effect. Am J Med Genet 1999;83:431.
31. Li S-Y, Gibson LH, Gomez K, Pober BR, Yang-Feng TL. Familial dup (5)(q15q21) associated with normal and abnormal phenotypes. Am J Med Genet 1998;75:75-7.
32. Harada N, Takano J, Kondoh T, Ohashi H, Hasegawa T, Sugawara H, Ida T, Yoshiura K, Ohta T, Kishino T, Kajii T, Niikawa N, Matsumoto N. Duplication of 8p23.2: a benign cytogenetic variant? Am J Med Genet 2002;111:285-8.
33. Tsai C-H, Graw SL, McGavran L. 8p23 duplication reconsidered: is it a true euchromatic variant with no clinical manifestation? J Med Genet 2002;39:769-74.
34. Robin NH, Harari-Shacham A, Schwartze S, Wolff D. Duplication 14(q24.3q31) in a father and daughter: delineation of a possible imprinted region. Am J Med Genet 1997;71:361-365.
35. Bolton PF, Dennis NR, Browne CE, Thomas NS, Veltman MW, Thompson RJ, Jacobs P. The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders. Am J Med Genet 2001;105:675-85.
36. Hirsch B, Heggie P, McConnell K. Inherited direct duplication of 15q11-15q12 including loci D15S11-GABRB3 in a child with autism. Am J Hum Genet 1995;57(suppl):A116.
37. Cook EH Jr, Lindgren V, Leventhal BL, Courchesne R, Lincoln A, Shulman C, Lord C. Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. Am J Hum Genet 1997;60:928-934.
38. Gurrieri F, Battaglia A, Torrisi L, Tancredi R, Cavallaro C, Sangiorgi E, Neri G. Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13. Neurology 1999;52:1694-7.
39. Schroer RJ, Phelan MC, Michaelis RC, Crawford EC, Skinner SA, Cuccaro M, Simensen RJ, Bishop J, Skinner C, Fender D, Stevenson RE. Autism and maternally derived aberrations of chromosome 15q. Am J Med Genet 1998;76:327-36.
40. Verma RS, Kleyman SM, Conte RA. Variant euchromatic band within 16q12.1. Clin Genet 1997;52:446-7.
41. Temple IK, Gardner RJ, Robinson DO, Kibirige MS, Fergusson AW, Baum JD, Barber JCK, James RS, Shielf JPH. Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23. Hum Mol Genet 1996;5:1117-23.
42. Guichaoua MR, Speed RM, Luciani JM, Delafontaine D, Chandley AC. Infertility in human males with autosomal translocations .2. Meiotic studies in 3 reciprocal rearrangements, one showing tertiary monosomy in a 45-chromosome individual and his father. Cytogenet Cell Genet 1992;60:96-101.
43. Fu W, Borgaonkar DS, Ladewig PP, Weaver J, Pomerance HH. Structural aberrations of the long arm of chromosome no.22. Clin Genet 1976;10:329-36.
44. Pfeiffer RA, Kessel EK, Soer K-H. Partial trisomies of chromosome 21 in man. Two new observations due to translocations 19;21 and 4;21. Clin Genet 1977;11:207-13.
45. Sanford Hanna JA, Ball S, Pagon RA, Donlan M. Mother to son transmission of del(1) (q42.1q42.3). Am J Med Genet 2001;98:103-6.
46. Tazelaar J, Roberson J, Vandyke DL, Babu VR, Weiss L. Mother and son with deletion of 3p25-pter. Am J Med Genet 1991;39:130-2.
47. Tonk VS, Jalal SM, Gonzalez J, Kennedy A, Velagaleti GV. Familial interstitial deletion of chromosome 4 (p15.2p16.1). Ann Genet 2003;46:453-8.
48. Herzog R, Babu A, Popescu S, Konstantinovska F, Punales-Morejon D, Kupchik G, Penchaszadeh VB. Chromosome 4 deletion (4q33-4qter) in a mother and son. Am J Hum Genet 1993;53:19.
49. Curtis MA, Smith RA, Sibert J, Hughes HE. Interstitial deletion, del(4)(q33q35.1) in a mother and two children. J Med Genet 1989;26:652-4.
50. Gould CP, Miller PR, Larkins SA, McKee S, Morton J, Adhami A, Davison EV. Inherited deletions of chromosome 4, del(4)(q32q33) and del(4)(q33q33) in two unrelated families. ACC Spring Conf 1999;18:21.
51. Baccichetti C, Lenzini E, Artifoni L, Caufin D, Marangoni P. Terminal deletion of the short arm of chromosome 5. Clin Genet 1988;34:219-23.
52. Hill SM, Waters JJ, Mercer AM, McKeown CME, Hulten MA. A 5p deletion in a 2 generation family: cytogenetic and FISH studies. Clin Cytog Bull 1990;2:37.
53. Cornish KM, Cross G, Green A, Willatt L, Bradshaw JM. A neuropsychological-genetic profile of atypical cri du chat syndrome: implications for prognosis. J Med Genet 1999;36:567-70.
54. Church DM, Bengtsson U, Nielsen KV, Wasmuth JJ, Niebuhr E. Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features. Am J Hum Genet 1995;56:1162-72.
55. Kushnick T, Rao KW, Lamb AN. Familial 5p-syndrome. Clin Genet 1984;26:472-6.
56. Martinez JE, Tuck-Muller CM, Superneau D, Wertelecki W. Fertility and the cri du chat syndrome. Clin Genet 1993;43:212-14.
57. Keppen LD, Gollin SM, Edwards D, Sawyer J, Wilson W, Overhauser J. Clinical phenotype and molecular analysis of a three-generation family with an interstitial deletion of the short arm of chromosome 5. Am J Med Genet 1992;44:356-60.
58. Walker JL, Blank CE, Smith BA. Interstitial deletion of the short arm of chromosome 5 in a mother and three children. J Med Genet 1984;21:465-7.
59. Pettenati MJ, Rao N, Johnson C, Hayworth R, Crandall K, Huff O, Thomas IT. Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardation. Hum Genet 1992;89:602-6.
60. Magenis RE, Lahr M, Hefits-Borchardt VA, Lawce H, Wilson T. Inherited microdeletion syndrome, due to loss of single band 9q31.3: the continuing case for high resolution chromosome studies in unexplained mild mental retardation. Am J Hum Genet 1989;45(suppl):A81.
61. Neavel CB, Soukup S. Deletion of (11)(q24.2) in a mother and daughter with similar phenotypes. Am J Med Genet 1994;53:321-324.
62. Fukushima Y, Kuroki Y, Ito T, Kondo I, Nishigaki I. Familial retinoblastoma (mother and son) with 13q14 deletion. Hum Genet 1987;77:104-7.
63. Byth BC, Costa MT, Teshima IE, Wilson WG, Carter NP, Cox DW. Molecular analysis of three patients with interstitial deletions of chromosome band 14q31. J Med Genet 1995;32:564-57.
64. Michaelis RC, Skinner SA, Lethco BA, Simensen RJ, Donlon TA, Tarleton J, Phelan MC. Deletion involving D15S113 in a mother and son without Angelman syndrome: refinement of the Angelman syndrome critical deletion region. Am J Med Genet 1995;55:120-6.
65. Rigola MA, Plaja A, Mediano C, Miro R, Egozcue J, Fuster C. Characterization of a heritable partial monosomy 18p by molecular and cytogenetic analysis. Am J Med Genet 2001;104:37-41.
66. Say B, Gopal Rao WN, Harris S, Coldwell J, Carpenter NJ, Chapman HA. Familial deletion of 18p associated with Turner like clinical features. Am J Hum Genet 1994;55(suppl):A117.
67. Tonk V, Krishna J. Case report: denovo inherited 18p deletion in a mother-fetus pair with extremely variable expression, confirmed by fluorescence in situ hybridization (FISH) analysis. Eur J Obstet Gynecol Reprod Biol 1997;73:193-6.
68. Tsukahara M, Imaizumi K, Fujita K, Tateishi H, Uchida M. Familial DeI(18p) syndrome. Am J Med Genet 2001;99:67-9.
69. Velagaleti GVN, Harris S, Carpenter NJ, Coldwell J, Say B. Familial deletion of chromosome 18 (p11.2). Ann Genet Paris 1996;39:201-4.
70. Uchida IA, McRae KN, Wang HC, Ray M. Familial short arm deficiency of chromosome 18 concomitant with arhinencephaly and alopecia congenita. Am J Hum Genet 1965;17:411-19.
71. Strathdee G, Sutherland R, Jonsson JJ, Sataloff R, Kohonen-Corish M, Grady D, Overhauser J. Molecular characterisation of patients with 18q23 deletions. Am J Hum Genet 1997;60:860-8.
72. Subrt I, Pokorny J. Familial ocurrence of 18q-. Hum Genet 1970;10:181-7.
73. Miller G, Mowrey PN, Hopper KD, Frankel CA, Ladda RL. Neurologic manifestations in 18q- syndrome. Am J Med Genet 1990;37:128-32.
74. Anad F, Burn J, Matthews D, Cross I, Davison BCC, Mueller R, Sands M, Lillington DM, Eastham E. Alagille syndrome and deletion of 20p. J Med Genet 1990;27:729-737.
75. Roland B, Chernos JE, Cox DM. 9qh variant band in two families. Am J Med Genet 1992;42:137-8.
76. Wilson DI, Cross IE, Goodship JA, Coulthard S, Carey AH, Scambler PJ, Bain HH, Hunter AS, Carter PE, Burn J. DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin. Br Heart J 1991;66:308-12.
77. Van Dyke DL. Isochromosomes and interstitial tandem direct and inverted duplications. In: Liss AR, ed. The cytogenetics of mammalian autosomal rearrangements. New York: Alan R Liss, 1988:635-65.
78. Wilson D, Cox H, Fiegler H, Wilkinson K, Fowler D, Moore K, Carter NP, Wellesley D, Barber J. Congenital heart disease, deafness and duplications of 3q; refining a new syndrome. J Med Genet 2003;40(suppl 1):S60.
79. Goodman BK, Capone GT, Hennessey J, Thomas GH. Familial tandem duplication of bands q31.1 to q32.3 on chromosome 4 with mild phenotypic effect. Am J Med Genet 1997;73:119-24.
80. Stallard R, Zurcher V, Schwartz S. Duplication of 5q21 in a mildly retarded male and his non-retarded mother. Am J Hum Genet 1994;55(suppl):A118.
81. Schaefer GB, Novak K, Steele D, Buehler B, Smith S, Zaleski D, Pickering D, Nelson M, Sander W. Familial inverted duplication 7p. Am J Med Genet 1995;56:184-7.
82. Joyce CA, Sharp A, Walker JM, Bullman H, Temple IK. Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Russell-Silver syndrome. Hum Genet 1999;105:273-80.
83. Kulharya AS, Norris KN, Sekul EA. Does anticipation exist for some familial chromosome abnormalities? Am J Hum Genet 1999;65(suppl):A168.
84. Kennedy SJ, Teebi AS, Adatia I, Teshima I. Inherited duplication, dup(8)(p23.1p23.1) pat, in a father and daughter with congenital heart defects. Am J Med Genet 2001;104:79-80.
85. Engelen JJM, de Die-Smulders CEM, Sijstermans JMJ, Meers LEC, Albrechts JCM, Hamers AJH. Familial partial trisomy 8p without dysmorphic features and only mild mental retardation. J Med Genet 1995;32:792-5.
86. Fan YS, Siu VM, Jung JH, Farrell SA, Cote GB. Direct duplication of 8p21.3→p23.1: a cytogenetic anomaly associated with developmental delay without consistent clinical features. Am J Med Genet 2001;103:231-4.
87. Dhooge C, Vanroy N, Craen M, Speleman F. Direct transmission of a tandem duplication in the short arm of chromosome 8. Clin Genet 1994;5:36-9.
88. Moog U, Engelen JJ, Albrechts JC, Baars LG, de Die-Smulders CE. Familial dup(8)(p12p21.1): mild phenotypic effect and review of partial 8p duplications. Am J Med Genet 2000;94:306-10.
89. Haddad BR, Lin AE, Wyandt H, Milunsky A. Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24). J Med Genet 1996;33:1045-7.
90. Voullaire L, Gardner RJM, Vaux C, Robertson A, Oertel R, Slater H. Chromosomal duplication of band 10p14 segregating through four generations. J Med Genet 2000;37:233-7.
91. Witt DR, Jenkins L, Pinheiro S, Bros L, Jones C. Inherited partial direct duplication of 11q. First report and possible association with a midline developmental field defect. Am J Hum Genet 1994;55(suppl):A122.
92. Pot MLH, Giltay JC, van Wilsen A, Breslau-Siderius EJ. Unbalanced karyotype, dup 14(q13-q22), in a mother and her two children. Clin Genet 1996;50:398-402.
93. Thomas JA, Johnson J, Peterson Kraai TL, Wilson R, Tartaglia N, LeRoux J, Beischel L, McGavran L, Hagerman RJ. Genetic and clinical characterization of patients with an interstitial duplication 15q11-q13, emphasizing behavioral phenotype and response to treatment. Am J Med Genet 2003;119A:111-20.
94. Barber JCK, Zjang S, Friend N, Collins AL, Hastings R, Farren B, Barnicoat A, Ye S. Transmitted duplications of proximal 16q flanked by heterochromatin; two new families with no evidence of a position effect. Hum Genet submitted.
95. Moog U, Engelen JJM, de Die-Smulders CEM, Albrechts JCM, Loneus WH, Haagen AAM, Raven EJM, Hamers AJH. Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication. Clin Genet 1994;46:423-9.
96. Glass IA, Stormer P, Oei PTSP, Hacking E, Cotter PD. Trisomy 2q11.2-q21.1 resulting from an unbalanced insertion in two generations. J Med Genet 1998;35:319-22.
97. Slavotinek A, Maher E, Gregory P, Rowlandson P, Huson SM. The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3. J Med Genet 1997;34:857-61.
98. Stone D, Ning Y, Guan XY, Kaiser-Kupfer M, Wynshaw-Boris A, Biesecker L. Characterization of familial partial 10p trisomy by chromosomal microdissection, FISH, and microsatellite dosage analysis. Hum Genet 1996;98:396-402.
99. Bezrookove V, Hansson K, van der Burg M, van der Smagt JJ, Hilhorst-Hofstee Y, Wiegant J, Beverstock GC, Raap AK, Tanke H, Breuning MH, Rosenberg C. Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH. Hum Genet 2000;106:392-8.
100. Cooke A, Tolmie JL, Colgan JM, Greig CM, Connor JM. Detection of an unbalanced translocation (4;14) in a mildly retarded father and son by flow cytometry. Hum Genet 1989;83:83-7.
101. Greenberg F, Crowder WE, Paschall V, Colon-Linares J, Lubianski B, Ledbetter DH. Familial DiGeorge syndrome and associated partial monosomy of chromosome 22. Hum Genet 1984;65:317-19.
102. Luthardt FW, Shadoan PK, Mains AE, Keitges EA, Hudgins LH, Church DM, Skogerboe KJ, Bengtsson U, Wasmuth JJ. Cytogenetic, molecular and clinical evaluation of an unbalanced familial 5p15.3 abnormality transmitted through four-generations. Am J Hum Genet 1995;97(suppl):A119.
103. Barber JCK, Temple IK, Campbell PL, Collinson MN, Campbell CM, Renshaw RM, Dennis NR. Unbalanced translocation in a mother and her son in one of two 5;10 translocation families. Am J Med Genet 1996;62:84-91.
104. Aviv H, Lieber C, Yenamandra A, Desposito F. Familial transmission of a deletion of chromosome 21 derived from a translocation between chromosome 21 and an inverted chromosome 22. Am J Med Genet 1997;70:399-404.
105. Delatycki MB, Voullaire L, Francis D, Petrovic V, Robertson A, Webber LM, Slater HR. Directly inherited partial trisomy of chromosome 6p identified in a father and daughter by chromosome microdissection. J Med Genet 1999;36:335-8.
106. Brooks SS, Genovese M, Gu H, Duncan G, Shanske A, Jenkins EC. Normal adaptive function with learning disability in duplication 8p including p22. Am J Med Genet 1998;78:114-17.
107. O'Malley DP, Storto PD. Confirmation of the chromosome 8p23.1 euchromatic duplication as a variant with no clinical manifestations. Prenat Diagn 1999;19:178-85.
108. Barber JCK, Joyce CA, Collinson MN, Nicholson JC, Willatt LR, Dyson HM, Bateman MS, Green AJ, Yates JRW, Dennis NR. Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance. J Med Genet 1998a;35:491-6.
109. Hollox EJ, Armour JA, Barber JC. Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster. Am J Hum Genet 2003;73:591-600.
110. Williams L, Larkins S, Roberts E, Davison EV. Two further cases of variation in band 8p23.1. Not always a benign variant? J Med Genet 1996;33(suppl 1):A3.020.
111. Krasikov N, Lamb AN, Vetrano LA, Hansen JL, Menges DE, Lytle CH, Roherty SL, Davenport MB, Pauker S, Dolkart L, Davis G. Benign variant 8p23.1? Am J Hum Genet 1993;53(suppl):A568.
112. Webb G, Krumins E, Eichenbaum S, Voullaire L, Earl E, Choo K. Non C-banding variants in some normal families might be homogeneously staining regions. Hum Genet 1989;82:59-62.
113. Buckton KE, O'Riordan ML, Ratcliffe S, Slight J, Mitchell M, McBeath S. A G-band study of chromosomes in liveborn infants. Ann Hum Genet 1980;43:227-39.
114. Archidiacono N, Pecile V, Rocchi M, Dalpra L, Nocera G, Simoni G. A rare non-heterochromatic 9p+ variant in two amniotic fluid cell cultures. Prenat Diagn 1984;4:231-3.
115. Wojiski SA, Harker Rhodes C, Brodhurst CA, Mohandas TK, Park JP. The G positive band of the rare euchromatic 9qh variant is derived from 9p12. App Cyto 1997;23:125-8.
116. Docherty Z, Hulten MA. Rare variant of chromosome 9. Am J Med Genet 1993;45:105-6.
117. Knight LA, Soon MG, Tan M. Extra positive band on the long arm of chromosome 9. J Med Genet 1995;32:994-5.
118. Roland B, Cox DM, Hoar DI, Fowlow SB, Robertson AS. A familial interstitial deletion of the long arm of chromosome 21. Clin Genet 1990;37:423-8.
119. Docherty Z, Hulten MA. Extra euchromatic band in the qh region of chromosome 9. J Med Genet 1985;22:157.
120. Fantes JA, Mewborn SK, Lese CM, Hedrick J, Brown RL, Dyomin V, Chaganti RS, Christian SL, Ledbetter DH. Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q. J Med Genet 2002;39:170-7.
121. Browne CE, Dennis NR, Maher E, Long SL, Nicholson J, Sillibourne J, Barber JCK. Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations. Am J Hum Genet 1997;61:1342-52.
122. Jalal SM, Persons DL, Dewald GW, Lindor NM. Form of 15q proximal duplication appears to be a normal euchromatic variant. Am J Med Genet 1994;52:495-7.
123. Barber JCK, Reed CJ, Dahoun SP, Joyce CA. Amplification of a pseudogene cassette underlies euchromatic variation of 16p at the cytogenetic level. Hum Genet 1999;104:211-18.
124. Bogart MH, Bradshaw C, Jones OW. Prenatal diagnosis of euchromatic 16p+ heteromorphisms in two unrelated families. Prenat Diagn 1991;11:417-18.
125. Croci G, Camurri L, Franchi F. A familial case of chromosome-16p variant. J Med Genet 1991;28:60-4.
126. Thompson PW, Roberts SH, Rees SM. Replication studies in the 16p+ variant. Hum Genet 1990;84:371-2.
127. Bryke CR, Breg WR, Potluri VR, Yang-Feng TL. Duplication of euchromatin without phenotypic effects: a variant of chromosome 16. Am J Med Genet 1990;36:43-4.
128. Thompson PW, Roberts SH. A new variant of chromosome 16. Hum Genet 1987;76:100-1.
129. Begleiter ML, Cooper HA, Paszfor LM, Butler MG. Chromosome 8p23.1 duplication: is there an association with a clinical phenotype. Am J Hum Genet 2000;65(suppl):A158.
130. Sutherland GR, Eyre H. Two unusual G-bands variants of the short arm of chromosome 9. Clin Genet 1981;19:331-4.
131. Spedicato FS, Di Comite A, Tohidast-Akrad M. An unusual variant chromosome 9 with an extra C-negative, G-dark segment in the short arm. Clin Genet 1985;28:162-5.
132. Jalal SM, Kukolich MK, Garcia M, Day DW. Euchromatic 9q+ heteromorphism in a family. Am J Med Genet 1990a;37:155-6.
133. Barber JCK, Cross IE, Douglas F, Nicholson JC, Moore KJ, Browne CE. Neurofibromatosis pseudogene amplification underlies euchromatic cytogenetic duplications and triplications of proximal 15q. Hum Genet 1998b;103:600-8.
134. Ludowese G, Thompson KJ, Sekhon GS, Pauli RM. Absence of predictable phenotypic expression in proximal 15q duplications. Clin Genet 1991;40:194-201.
135. Hoo J-J, Chao MC, Samuel IP, Morgan AM. Proximal 15q variant as possible pitfall in the cytogenetic diagnosis of Prader-Willi syndrome. Clin Genet 1990;37:161-6.
136. Shohat M, Shohat T, Rimoin DL, Mohandas T, Heckenlively J, Magenis RE, Davidson MB, Korenberg JR. Rearrangement of Chromosome 15 in the region q11.2→q12 in an individual with obesity syndrome and her normal mother. Am J Med Genet 1990;37:173-7.
137. Brookwell R, Veleba A. Proximal 15q variant with normal phenotype in three unrelated individuals. Clin Genet 1987;31:311-14.
138. Berry R, Mcgavran L, Robinson J, Staley L. Familial duplication of proximal 15q in Prader-Willi individual and her normal father. Am J Hum Genet 1987;41(suppl):A114.
139. Clark RE, Geddes D, Whittaker K, Jacobs A. Myelodysplastic syndrome in a kindred with ins(16)(p11.2). Clin Genet 1988;33:418-23.
140. Jalal SM, Schneider NR, Kukolich MK, Wilson GN. Euchromatic 16p+ heteromorphism: first report in North America. Am J Med Genet 1990b;37:548-50.
141. Hasegawa T, Asamura S, Nagai T, Tsuchiya Y. An unusual variant of chromosome 16 in three generations. Acta Paediatr Jpn 1992;34:166-8.
142. Gibbons B, Tan SY, Barber JCK, Ng CF, Knight LA, Lam S, Ng I. Duplication of 8p with minimal phenotypic effect transmitted from a mother to her two daughters. J Med Genet 1999;36:419-22.
143. Mignon C, Parente F, Stavropoulou C, Collignon P, Moncla A, Turc-Carel C, Mattei M-G. Inherited DNA amplification of the proximal 15q region: cytogenetic and molecular studies. J Med Genet 1997;34:217-22.
144. Stallard R, Van Dyke D. Familial duplications of proximal 15q in normal individuals. Am J Hum Genet 1986;39(suppl):A133.
145. Kirchhoff M, Rose H, Lundsteen C. High resolution comparative genomic hybridisation in clinical cytogenetics. J Med Genet 2001;38:740-4.
146. Martin CL, Waggoner DJ, Wong A, Uhrig S, Roseberry JA, Hedrick JF, Pack SD, Russell K, Zackai E, Dobyns WB, Ledbetter DH. "Molecular rulers" for calibrating phenotypic effects of telomere imbalance. J Med Genet 2002;39:734-40.
147. Kirchhoff M, Pedersen S, Kjeldsen E, Rose H, Duno M, Kolvraa S, Lundsteen C. Prospective study comparing HR-CGH and subtelomeric FISH for investigation of individuals with mental retardation and dysmorphic features and an update of a study using only HR-CGH. Am J Med Genet 2004;127A:111-17.
148. Vissers LE, de Vries BB, Osoegawa K, Janssen IM, Feuth T, Choy CO, Straatman H, van der Vliet W, Huys EH, van Rijk A, Smeets D, van Ravenswaaij-Arts CM, Knoers NV, van der Burgt I, de Jong PJ, Brunner HG, van Kessel AG, Schoenmakers EF, Veltman JA. Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet 2003;73:1261-70.
149. Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, Fiegler H, Firth H, Sanlaville D, Winter R, Colleaux L, Bobrow M, Carter NP. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet 2004;41:241-8.
150. Gardner RJM, Sutherland GR. Chromosome abnormalities and genetic counselling, 3rd edn. Oxford: Oxford University Press, 2004.
151. In: Wyandt HE, Tonk VS, eds. Atlas of human chromosome heteromorphisms. Dordrecht: Kluwer Academic Publishers, 2004.
152. Faivre L, Morishon-Delvallez N, Viot G, Martinovic J, Pinson MP, Aubry JP, Raclin V, Edery P, Dumez Y, Munnich A, Vekemans M. Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature. Prenat Diagn 1999;19:49-53.
153. Crolla JA. FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature. Am J Med Genet 1998;75:367-81.
154. Liehr T, Claussen U, Starke H. Small supernumerary marker chromosomes (sSMC) in humans. Cytogenet Genome Res 2004;107:55-67.
155. Kosztolanyi G, Mehes K, Hook EB. Inherited ring chromosomes - an analysis of published cases. Hum Genet 1991;87:320-4.
156. Daniel A. Structural differences in reciprocal translocations. Potential for a model of risk in rcp. Hum Genet 1979a;51:171-82.
157. Morton NE. Parameters of the human genome. Proc Natl Acad Sci 1991;88:7474-6.
158. Davis G, James T, Larkins SA, Dyer SA, Gould CP, Thompson DA, MacDonald F, Cole T, Davison EV. A large de novo deletion of the long arm of chromosome 10 without apparent clinical effect. J Med Genet 1999;36(suppl 1):3.239.
159. Stumm M, Musebeck J, Tonnies H, Volleth M, Lemke J, Chudoba I, Wieacker P. Partial trisomy 9p12p21.3 with a normal phenotype. J Med Genet 2002;39:141-4.
160. Rivera H, Turleau C, de Grouchy J, Junien C, Despoisse S, Zucker J-M. Retinoblastoma-del(13q14): Report of two patients, one with a trisomic sib due to maternal insertion. Gene-dosage effect for esterase D. Hum Genet 1981;59:211-14.
161. Starke H, Senger G, Kossakiewicz M, Tittelbach H, Rau D, Rubtsov N, Trifonov V, Heller A, Hartmann I, Claussen U, Liehr T. Maternal insertion of 18q11.2-q12.2 in 18p11.3 of the same chromosome analysed by microdissection and multicolour banding (MCB). Prenat Diagn 2001;21:1049-52.
162. Shapira SK, McCaskill C, Northrup H, Spikes AS, Elder FFB, Sutton VR, Korenberg JR, Greenberg F, Shaffer LG. Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. Am J Hum Genet 1997;61:642-50.
163. De Vries BB, Winter R, Schinzel A, van Ravenswaaij-Arts C. Telomeres: a diagnosis at the end of the chromosomes. J Med Genet 2003;40:385-98.
164. Riegel M, Baumer A, Jamar M, Delbecque K, Herens C, Verloes A, Schinzel A. Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes. Hum Genet 2001;109:286-94.
165. Yamagishi H, Ishii C, Maeda J, Kojima Y, Matsuoka R, Kimura M, Takao A, Momma K, Matsuo N. Phenotypic discordance in monozygotic twins with 22q11.2 deletion. Am J Med Genet 1998;78:319-21.
166. Kumar A, Cassidy SB, Romero L, Schwartz S. Molecular cytogenetics of a de novo interstitial deletion of chromosome arm 6q in a developmentally normal girl. Am J Med Genet 1999;86:227-31.
167. Gilmore L, Cuskelly M, Jobling A, Smith S. Deletion of 8p: a report of a child with normal intelligence. Dev Med Child Neurol 2001;43:843-6.
168. Milunsky JM, Huang XL. Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH. Clin Genet 2003;64:509-16.
169. Miyake N, Harada N, Shimokawa O, Ohashi H, Kurosawa K, Matsumoto T, Fukushima Y, Nagai T, Shotelersuk V, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS. Am J Med Genet 2004;128A:170-2.
170. Casamassima AC, Klein RM, Wilmot PL, Brenholz P, Shapiro LR. Deletion of 16q with prolonged survival and unusual radiographic manifestations. Am J Med Genet 1990;37:504-9.
171. Barber JCK. Euchromatic heteromorphism or duplication without phenotypic effect? Prenat Diagn 1994;14:323-4.
172. Engelen JJ, Die-Smulders, CE de, Vos PT, Meers LE, Albrechts JC, Hamers AJ. Characterizastion of a partial trisomy 16q with FISH. Report of a patient and review of the literature. Ann Genet 1999;42:101-4.
173. Korenberg JR, Kalousek DK, Anneren G, Pulst S-M, Hall JG, Epstein CJ, Cox DR. Deletion of chromosome 21 and normal intelligence: molecular definition of the lesion. Hum Genet 1991;87:112-18.
174. Daniel A. Case reports: normal phenotype and partial trisomy for the G-positive region of chromosome 21. J Med Genet 1979b;16:227-9.
175. Leana-Cox J, Pangkanon S, Eanet KR, Curtin MS, Wulfsberg EA. Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: report of five families with a review of the literature. Am J Med Genet 1996;65:309-16.
176. Ritchie JR, Mattei M-G, Lalande M. A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications. Hum Mol Genet 1998;8:1253-60.
177. Sugawara H, Harada N, Ida T, Ishida T, Ledbetter DH, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23. Genomics 2003;82:238-44.
178. Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, Maner S, Massa H, Walker M, Chi M, Navin N, Lucito R, Healy J, Hicks J, Ye K, Reiner A, Gilliam TC, Trask B, Patterson N, Zetterberg A, Wigler M. Large-scale copy number polymorphism in the human genome. Science 2004;305:525-8.
179. Barber JCK, Maloney, Hollox EJ, Stuke-Sontheimer A, du Bois G, Daumiller E, Klein-Vogler U, Dufke A, Armour JAL, Liehr T. Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level. Eur J Med Genet, submitted.
180. Spellman RA, Rhodes CH, Wojiski SA, Mohandas TK, Park JP. Molecular cloning studies of chromosome region 9p12 reveal homology to proximal 9q; implications for chromosome 9 polymorphisms. J Assoc Genet Technol 1998;24:153.
181. Regnier V, Meddeb M, Lecointre G, Richard F, Duverger A, Nguyen VC, Dutrillaux B, Bernheim A, Danglot G. Emergence and scattering of multiple neurofibromatosis (NF1)-related sequences during hominoid evolution suggest a process of pericentromeric interchromosomal transposition. Hum Mol Genet 1997;6:9-16.
182. Eichler EE, Lu F, Shen Y, Antonacci R, Jurecic V, Doggett NA, Moyzis RK, Baldini A, Gibbs RA, Nelson DL. Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution. Hum Mol Genet 1996;5:899-913.
183. Eichler EE, Budarf ML, Rocchi M, Deaven LL, Doggett NA, Baldini A, Nelson DL, Mohrenweiser HW. Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity. Hum Mol Genet 1997;6:991-1002.
184. Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C. Detection of large-scale variation in the human genome. Nat Genet 2004;36:949-51.
185. Savelyeva L, Claas A, Matzner I, Schlag P, Hofmann W, Scherneck S, Weber B, Schwab M. Constitutional genomic instability with inversions, duplications, and amplifications in 9p23-24 in BRCA2 mutation carriers. Cancer Res 2001;61:5179-85.
186. Horsley SW, Daniels RJ, Anguita E, Raynham HA, Peden JF, Villegas A, Vickers MA, Green S, Waye JS, Chui DHK, Ayyub H, MacCarthy AB, Buckle VJ, Gibbons RJ, Kearney L, Higgs DR. Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects. Eur J Hum Genet 2001;9:217-25.
187. Linden MG, Bender BG. Related. Fifty-one prenatally diagnosed children and adolescents with sex chromosome abnormalities. Am J Med Genet 2002;110:11-18.
188. Gu X. Evolution of duplicate genes versus genetic robustness against null mutations. Trends Genet 2003;19:354-6.
189. Knight JC. Allele-specific gene expression uncovered. Trends Genet 2004;20:113-16.
190. Bengtsson U, Mcmahon J, Quarrell O, Rubenstein C, David K, Greenberg F, Wasmuth JJ. Phenotypically normal carriers of unbalanced terminal deletions of 5p transmit the deletions to offspring who display growth and developmental delay. Am J Hum Genet 1990;47(suppl):A818.
191. Biesecker LG. The end of the beginning of chromosome ends. Am J Med Genet 2002;107:263-6.
192. Harada N, Hatchwell E, Okamoto N, Tsukahara M, Kurosawa K, Kawame H, Kondoh T, Ohashi H, Tsukino R, Kondoh Y, Shimokawa O, Ida T, Nagai T, Fukushima Y, Yoshiura K, Niikawa N, Matsumoto N. Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation. J Med Genet 2004;41:130-6.
193. Buckland PR. Polymorphically duplicated genes: their relevance to phenotypic variation in humans. Ann Med 2003;35:308-15.
194. Hirotsune S, Yoshida N, Chen A, Garrett L, Sugiyama F, Takahashi S, Yagami K, Wynshaw-Boris A, Yoshiki A. An expressed pseudogene regulates the messenger-RNA stability of its homologous coding gene. Nature 2003;423:91-6.
195. Ji Y, Eichler E, Schwartz S, Nicholls RD. Structure of chromosomal duplicons and their role in mediating human genomic disorders. Genome Res 2000;10:597-610.
196. Bailey JA, Gu Z, Clark RA, Reinert K, Samonte RV, Schwartz S, Adams MD, Myers EW, Li PW, Eichler EE. Recent segmental duplications in the human genome. Science 2002;297:1003-7.
197. Giglio S, Broman KW, Matsumoto N, Calvari V, Gimelli G, Neumann T, Ohashi H, Voullaire L, Larizza D, Giorda R, Weber JL, Ledbetter DH, Zuffardi O. Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. Am J Hum Genet 2001;68:874-83.
198. Giglio S, Calvari V, Gregato G, Gimelli G, Camanini S, Giorda R, Ragusa A, Guerneri S, Selicorni A, Stumm M, Tonnies H, Ventura M, Zollino M, Neri G, Barber J, Wieczorek D, Rocchi M, Zuffardi O. Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. Am J Hum Genet 2002;71:276-85.
199. Bailey JA, Baertsch R, Kent WJ, Haussler D, Eichler EE. Hotspots of mammalian chromosomal evolution. Genome Biol 2004;5:R23.
200. Chandley AC. Meiotic studies and fertility in human translocation carriers. In: Daniel A, ed. The cytogenetics of mammalian autosomal rearrangements. New York: Alan R Liss, 1988:361-82.
201. Mitelman F, ed. ISCN 1995: An international system for human cytogenetic nomenclature. Basel: Karger, 1995.
202. Lindsley DL, Sandler L, Baker BS, Carpenter ATC, Denell RE, Hall JC, Jacobs PA, Miklos GLG, Davis BK, Gethmann RC, Hardy RW, Hessler A, Miller SM, Nozawa H, Parry DM, Gould-Somero M. Segmental aneuploidy and the genetic gross structure of the Drosophila genome. Genetics 1972;71:157-84.
203. Epstein G. The consequences of chromosomal imbalance. Cambridge: Cambridge University Press, 1986:39-42.
204. Epstein CJ. The pathogenesis of aneuploid phenotypes: the fallacy of explanatory reductionism. Am J Med Genet 1988;33:151.
205. Shapiro BL. Letter to the Editor: The pathogenesis of aneuploid phenotypes: the fallacy of explanatory reductionism. Am J Hum Genet 1989;33:146-150.
206. Wilson GN. Karyotype/phenotype controversy: genetic and molecular implications of alternative hypotheses. Am J Med Genet 1990b;36:500-5.
207. Wilson GN, Heller KB, Elterman RD, Schneider NR. Partial trisomy 18 with minimal anomalies: lack of correspondence between phenotypic manifestations and triplicated loci along chromosome 18. Am J Med Genet 1990;36:506-10.
208. Korenberg JR, Chen X-N, Schipper R, Sun Z, Gonsky R, Gerwehr S, Carpenter N, Daumer C, Dignan P, Disteche C, Graham JM Jr, Hugdfins L, McGillivray B, Miyazaki K, Ogasawara N, Park JP, Pagon R, Pueschel S, Sack G, Say B, Schuffenhauer S, Soukup S, Yamanaka T. Down syndrome phenotypes: the consequences of chromosomal imbalance. Proc Natl Acad Sci USA 1994;91:4997-5001.
209. FitzPatrick DR, Ramsay J, McGill NI, Shade M, Carothers AD, Hastie ND. Transcriptome analysis of human autosomal trisomy. Hum Molec Genet 2002;113:249-56.
210. Cody JD, Hale DE. Precision in phenotyping and genotyping. Am J Med Genet 2004;131A:313.