Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non-acrocentric satellited chromosomes

American Journal of Medical Genetics, Part A

Volumn 155, Issue 11, 2011, Pages 2841-2854

  Sarri, Catherine ^a   Douzgou, Sofia ^a   Gyftodimou, Yolanda ^a   Tümer, Zeynep ^b   Ravn, Kirstine ^b   Pasparaki, Angela ^c   Sarafidou, Theologia ^d,g   Kontos, Harry ^e   Kokotas, Haris ^a   Karadima, Georgia ^a   Grigoriadou, Maria ^a   Pandelia, Effie ^a   Theodorou, Virginia ^f   Moschonas, Nicholas K ^d,h   Petersen, Michael B ^a  

^a Institute of Child Health   (Greece)

^b JOHN F KENNEDY INSTITUTE   (Denmark)

^c INSTITUTE OF MOLECULAR BIOLOGY AND BIOTECHNOLOGY   (Greece)

^d UNIVERSITY OF CRETE   (Greece)

^e Genomedica SA   (Greece)

^f AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^g UNIVERSITY OF THESSALY   (Greece)

^h UNIVERSITY OF PATRAS   (Greece)

Author keywords

Array CGH; Behavioral anomalies; Chromosome 10; Deletion; Duplication; Non acrocentric satellited chromosomes; Phychomotor delay

Indexed keywords

RNA 28S;

ACROCENTRIC CHROMOSOME; ADOLESCENT; ARTICLE; CASE REPORT; CENTROMERE; CHROMOSOME 10Q; CHROMOSOME ARM; CHROMOSOME BANDING PATTERN; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; CHROMOSOME SATELLITE; CHROMOSOME TRANSLOCATION; CLINICAL EVALUATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; HUMAN; INTELLECTUAL IMPAIRMENT; MEDICAL HISTORY; MICROSATELLITE MARKER; MONOSOMY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SEQUENCE HOMOLOGY; TELOMERE; TRISOMY;

ADOLESCENT; BODY DYSMORPHIC DISORDERS; CENTROMERE; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 10; CHROMOSOMES, HUMAN, Y; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; FOLLOW-UP STUDIES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INHERITANCE PATTERNS; INTELLECTUAL DISABILITY; NUCLEOLUS ORGANIZER REGION; PHENOTYPE; PRENATAL DIAGNOSIS; TELOMERE; TRANSLOCATION, GENETIC;

EID: 80054887678     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34259     Document Type: Article

References (107)

1. Arai E, Nishimura S, Tamura K, Kida M, Ikeuchi T. 1994. Chromosome 1q terminal deletion resulting from de novo translocation with an acrocentic chromosome. Jpn J Hum Genet 39:433-437.
2. Atkin NB, Baker MC. 1995. Ectopic nucleolar organizer regions. A common anomaly revealed by Ag-NOR staining of metaphases from nine cancers. Cancer Genet Cytogenet 85:129-132.
3. Babu VR, Robertson JR, Van Dyke DL, Weiss L. 1987. Interstitial deletion of 4q35 in a familial satellited 4q in a child with developmental delay. Am J Hum Genet 41:A113.
4. Barbi G, Kennerknecht I, Klett C. 1992. Reciprocal translocation t(1;15) (p36.2;p11.2): Confirmation of a suggestive cytogenetic diagnosis by in situ hybridization and clinical case report on resulting monosomy (1p). Am J Med Genet 43:722-725.
5. Bauld R, Ellis PM. 1984. A satellited chromosome 2. J Med Genet 21:54.
6. Carter MT, Dyack S, Richer J. 2010. Distal trisomy 10q syndrome: Phenotypic features in a child with inverted duplicated 10q25.1-q26.3. Clin Dysmorphol 19:140-145.
7. Chandley AC, Gosden JR, Hargreave TB, Spowart G, Speed RM, McBeath S. 1989. Deleted Yq in the sterile son of a man with a satellited Y chromosome (Yqs). J Med Genet 26:145-153.
8. Chen CP, Devriendt K, Chern SR, Lee CC, Wang W, Lin SP. 2000. Prenatal diagnosis of inherited satellited non-acrocentric chromosomes. Prenat Diagn 20:384-389.
9. Chen CP, Lin SP, Chern SR, Lee CC, Huang JK, Wang W, Liao YW. 2004. De novo satellited 21q associated with corpus callosum dysgenesis, colpocephaly, a concealed penis, congenital heart defects, and developmental delay. Genet Couns 15:437-442.
10. Corti C, Villa N, Baronciani D, Martinoli E, Colombo D, Belloti D, Tonelli M, Barlati S, Palpra L. 1999. Satellited autosomes: Identification of the translocation breakpoints and acrocentric donor. Cytogenet Cell Genet 85: abstr 449.
11. Cosper R, Hicks LC, Finley SC, Davis RO, Carroll AJ. 1985. Familial insertion of nucleolar organizer regions and centromere material into the long arm of 11. Am J Hum Genet 37:A89.
12. Curtis H, Howell RT, Cope C. 1986. Terminal deletion of the long arm of chromosome 10. J Med Genet 23:478-480.
13. Dahoun S, Kern I, Sando Z, Antonarakis SE, Sakkas D, Morris MA. 1997. Familial t(6;21) (p21.1;p13) translocation retaining Ag-NORs associated with male sterility. Am J Hum Genet 61:A122.
14. Dev VG, Byrne J, Bunch G. 1979. Partial translocation of NOR and its activity in a balanced carrier and in her cri-du-chat fetus. Hum Genet 51:277-280.
15. Devriendt K, Matthijs G, Holvoet M, Schoenmakers E, Fryns JP. 1999. Triplication of distal chromosome 10q. J Med Genet 36:242-245.
16. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J. 1996. A comrehensive genetic map of the human genome based on 5, 264 microsatellites. Nature 380:152-154.
17. Elliott J, Barnes ICS. 1992. A satellited chromosome 2 detected at prenatal diagnosis. J Med Genet 29:203.
18. Estabrooks LL, Lamb AN, Kirkman HN, Callanan NP, Rao KW. 1992. A molecular deletion of distal chromosome 4p in two families with a satellited chromosome 4 lacking the Wolf-Hirschhorn syndrome phenotype. Am J Hum Genet 51:971-978.
19. Evans-Jones G, Walker S, Howard OJ. 1983. A further case of monosomy 10qter. Clin Genet 24:216-219.
20. Evans HJ, Buckland RA, Pardue MC. 1974. Location of the genes coding for 18S and 28S ribosomal RNA in the human genome. Chromosoma 48:405-426.
21. Faivre L, Morichon-Delvallez N, Viot G, Larget-Piet A, Narcy F, Turleau C, Pinson MP, Dumez Y, Munnich A, Vekemans M. 1999. Prenatal diagnosis of a satellited non-acrocentric chromosome derived from a maternal translocation (10;13) (p13;p12) and review of literature. Prenat Diagn 19:282-286.
22. Fryns JP, Kleczkowska A, Fivez H, Van den Berghe H. 1989. Severe midline fusion defects in a newborn with 10q26-qter deletion. Ann Genet 32:124-125.
23. Giacalone JP, Francke U. 1992. Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion. Am J Hum Genet 50:725-741.
24. Genest P. 1973. Transmission hereditaire, depui 300 ans, d'un chromosome Y a satellites dans une lignee familiale. Ann Genet 16:35-38.
25. Genest P. 1978. A satellited Y chromosome. Ann Genet 21:237-238.
26. Genest P. 1979. Remarks on a satellited Y chromosome. Sem Hop 55:799-800.
27. Genest P, Genest FB, Gagnon-Blais D. 1983. Unusual chromosomal rearrangement. An autosomal telomeric translocation on a multicentury satellited Y (Yqs) chromosome. Ann Genet 26:86-90.
28. Goldsmith CL, Doza A, Boycott KM. 2010. A de novo terminal deletion of 10q26.3 associated with poor attention, developmental delay and ataxia with normal cerebellum of MRI. American Society of Human Genetics 60th Annual Meeting, Washington DC, 757/T, 246.
29. Gorinati M, Zamboni G, Padoin N, Dodero A, Caufin D, Memo L. 1989. Terminal deletion of the long arm of chromosome 10: Case report and review of the literature. Am J Med Genet 33:502-504.
30. Greenberg F, Elder FFB, Clunsky J, Feldman G, Ledbetter DH. 1989. Further delineation of the monosomy 10q syndrome. Proc Greenwood Genet Center 8:214-215.
31. Grabowski M, Fauth Ch, Wirtz A, Speicher MR. 2000. Breakpoint within the nucleolus organizer region resulting in a reciprocal translocation t(4;14) (q21;p12). Am J Med Genet 92:264-268.
32. Guttenbach M, Nassar N, Feichtinger W, Steinlein C, Nanda I, Wanner G, Kerem B, Schmid M. 1998. An interstitial nucleolus organizer region in the long arm of human chromosome 7: Cytogenetic characterization and familial segregation. Cytogenet Cell Genet 80:104-112.
33. Guttenbach M, Haaf T, Steinlein C, Caesar J, Schinzel A, Schmid M. 1999. Ectopic NORs on human chromosomes 4qter and 8q11: Rare chromosomal variants detected in two families. J Med Genet 36:339-342.
34. Habibian R, Hajianpour MJ, Shaffer LG, Niedenard L, Hajianpour AK. 1994. Genotype-phenotype correlation in satellited 1p chromosome: Importance of fluorescence in situ hybridization (FISH) applications. Am J Hum Genet 55:A106.
35. Hansmann I, Wiedeking C, Grimm T, Gebauer J. 1977. Reciprocal or non-reciprocal human translocations? The identification of reciprocal translocations by silver staining. Hum Genet 38:1-5.
36. Harada N, Abe K, Kondon T, Hirota T, Niikawa N. 1989. Satellited chromosome 9 in a boy with multiple anomalies. Jinrui Idengaku Zasshi 34:297-305.
37. Hassold T, Jacobs PA, Petlay D. 1987. Analysis of micleolar organizing regions in parents of trisomic spontaneous abortions. Hum Genet 76:381-384.
38. Hawks-Arn P, Younie L, Russo S, Zackowski JL, Mankinen C, Estabrooks L. 1995. Reproductive outcome in 3 families with a satellited chromosome 4 with review of the literature. Am J Med Genet 57:420-424.
39. Hou JW. 2003. Chromosomal 10q26 trisomy resulting from paternal t(9;10)(pter;q26.1). J Formos Med Assoc 102:887-892.
40. Hsu TC, Spirito SE, Pardue ML. 1975. Distribution of 18+28S ribosomal genes in mammalian genomes. Chromosoma 53:25-36.
41. Iconen E, Salo A, Somer M, Somer H, Paakkonen L, Peltonen L. 1992. Terminal deletion of chromosome 4p (4p16.3) shows a breakpoint between loci linked to Huntington disease. Am J Med Genet 43:753-758.
42. Ki A, Rauen KA, Black LD, Kostiner DR, Sandberg PL, Pinkel D, Albertson DG, Norton ME, Cotter PD. 2003. Ring 21 chromosome and a satellited 1p in the same patient: Novel origin for an ectopic NOR. Am J Med Genet 120 A:365-369.
43. Killos LD, Lese CM, Mills PL, Precht KS, Stanley WS, Ledbetter DH. 1997. A satellited 17p with telomere deleted and no apparent clinical consequence. Am J Hum Genet 61:A130.
44. Kogasaka R, Morohoshi T, Sawada Y, Fujiwara M. 1990. Terminal deletion of chromosome 10q and its clinical features. Acta Paediatr Jpn 32:83-87.
45. Kühl H, Rottger S, Hellbronner H, Enders H, Schempp W. 2001. Loss of the Y chromosomal PAR2-region in four familial cases of satellited Y chromosomes (Yqs). Chromos Res 9:215-222.
46. Lamb AN, Pettenati M, Hanna J, Krasikov N, Neu R, Rao N, Weinstein M, Weiser J, Estabrooks L. 1995. Six cases of satellited long arm of chromosome 2 detected during prenatal chromosome diagnosis. Am J Hum Genet 57:A282.
47. Lese CM, Precht KS, Horner MB, Day-Salvatore D, Pellegrino JE, Sawyer JC, Cheung SW, Ledbetter DH. 1998. Telomere integrity in satellited chromosomes. Am J Hum Genet abstr 208, 63:A40.
48. Leonard NJ, Harley FL, Lin CC. 1999. Terminal deletion of chromosome 10q at band 26. 1: Follow up in an adolescent male with high- output renal failure from congenital obstructive uropathy. Am J Med Genet 86:115-117.
49. Lewandowski RC Jr, Kukolich MK, Sears JW, Mankinen CB. 1978. Partial deletion 10q. Hum Genet 42:339-343.
50. Lin CL, Gibson L, Pober B, Yang-Feng JL. 1995. A de novo satellited short arm of the Y chromosome possibly resulting from an unstable translocation. Hum Genet 96:585-588.
51. Lucas M, Wallace I, Hirschhorn K. 1972. Recurrent abortions and chromosome abnormalities. J Obstet Gynec Br Cmwlth 79:1119-1127.
52. Lucusa T, Smeets E, Vermeesch JR, Fryns JP. 2002. Small terminal 10q26 deletion in a male patient with Noonan-like stigmata: Diagnosis by cytogenetic and FISH analysis. Genet Couns 13:417-425.
53. Lucusa T, Fryns JP. 2000. Pure distal monosomy 10q26 in a patient displaying clinical features of Prader-Willi syndrome during infancy and distinct behavioural phenotype in adolescence. Genet Couns 11:119-126.
54. Lyle R, Wright TJ, Clark LN, Hewitt JE. 1995. The FSHD-associated repeat, D4Z4, is a member of a dispersed family of homeobox-containing repeats, subsets of which are clustered on the short arms of the acrocentric chromosomes. Genomics 28:389-397.
55. Martin MJ, Rodriguez T, Abrisqueta JA. 1982. A new case of satellited Y chromosome. Hum Genet 61:277.
56. Mehta L, Duchett DP, Young ID. 1987. Behaviour disorder in monosomy 10qter. J Med Genet 24:185-187.
57. Mihelick K, Jackson-Cook C, Hays P, Flannery DB, Brown JA. 1984. Craniorachischisis in a fetus with familial satellited 4q. Am J Hum Genet 36:105S.
58. Mikkelsen M, Basli A, Poulsen H. 1980. Nucleolus organizer regions in translocations involving acrocentric chromosomes. Cytogenet Cell Genet 26:14-121.
59. Miller DA, Dev VG, Tantraavahi R, Miller OJ. 1976. Suppression of human nucleolus organizer activity in mouse-human somatic hubrid cells. Exp Cell Res 101:235-243.
60. Miller I, Songster G, Fontana S, Hsieh C-L. 1995. Satellited 4q identified in amniotic fluid cells. Am J Med Genet 55:237-239.
61. Mulcahy MT, Pemberton PJ, Thompson E, Watson M. 1982. Is there a monosomy 10qter syndrome? Clin Genet 21:33-35.
62. Mutoh A, Sasagawa I, Tateno T, Sawamura T, Nakada T. 1999. Long arm deletion of chromosome 10 in a boy with monorchidism. Scand J Urol Nephrol 33:77-78.
63. Neerman-Arbez M, DeLozier-Blanchet CD, Bolle JF. 1993. High incidence of ectopic nucleolar organizer regions in human testicular tumors. Cancer Genet Cytogenet 65:58-63.
64. Ogata T, Muroya K, Sasagawa I, Kosho T, Wakui K, Sakazume S, Ito K, Matsuo N, Ohast H, Nagai T. 2000. Genetic evidence for a novel gene(s) involved in urogenital development on 10q26. Kidney Int 58:2281-2290.
65. O'Malley DP, Diehn T, Bullard B, Netzloff ML, Van Precht K, Storto P. 1997. Satellite chromosome 10 detected prenatally in fetus and mosaic in a parent. Am J Hum Genet 65:A159.
66. Parslow M, Chambers D, Brummond M, Hunter W. 1979. Two cases of trisomy 12p due to rcp t(12;21)(p11;p11) inherited through three generations. Hum Genet 47:253-260.
67. Petersen MB, Economou EP, Slaugenhaupt SA, Chakravarti A, Antonarakis SE. 1990. Linkage analysis of the human HMG14 gene on chromosome 21 using a GT dinucleotide repeat as polymorphic marker. Genomics 7:136-138.
68. Petit P, Dedriemdt K, Azou M, Fryns JP. 1998. Terminal deletion of chromosome 10q26: Delineation of two clinical phenotypes. Genet Couns 9:271-275.
69. Pinkel D, Straume T, Gray JW. 1986. Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc Natl Acad Sci USA 83:2934-2938.
70. Prieto F, Badia L, Beneyto M, Palau F. 1989. Nucleolus organizer regions (NOR) inverted in 6q15. 1989. Hum Genet 81:289-290.
71. Reddy KS. 1998. Clinical management of a rare de novo translocation 46, X, t(Y;15) (p11.2 approximately 11.3;q11.2).ish t(Y;15).(DYZ3+, AMELY+, SNRPN+;D15Z+) found prenatally. Prenat Diagn 18:294-297.
72. Reddy KS, Sulcova V. 1998. The mobile nature of acrocentric elements illustrated by three unusual chromosome variants. Hum Genet 102:653-662.
73. Rosenberg M, Hui L, Ma J, Nusbaum HC, Clark K, Robinson L, Dziadro L, Swain PM, Keith T, Hudson TJ, Biesecker LG, Flint J. 1997. Characterization of short tandem repeats from thirty-one human telomeres. Genome Res 7:917-923.
74. Rujirabanjerd S, Suwannarat W, Spiro T, Dissaneevate P, Permsirivanich W, Limprasert P. 2007. De novo subtelomeric deletion of 15q associated with satellite translocation in a child with developmental delay and severe growth retardation. Am J Med Genet 143A:271-276.
75. Savary JB, Vasseur F, Manouvrier S, Daudignon A, Lemaire O, Thieuleux M, Poher M, Lequien P, Deminatti MM. 1991. Trisomy 16q23-qter arising from a maternal t(13;16)(p12;q23) case report and evidence of the reciprocal balanced maternal rearrangement by the Ag-NOR technique. Hum Genet 88:115-118.
76. Schmid M, Haaf T, Solleder E, Schempp W, Leipoldt M, Heilbronner H. 1984. Satellited Y chromosomes: Structure, origin, and clinical significance. Hum Genet 67:72-85.
77. Schrander-Stumpel C, Fryns JP, Hamers G. 1991. The partial monosomy 10q syndrome: Report on two patients and review of the developmental data. J Ment Defic Res 35:259-267.
78. Scigliano S, Grégoire MJ, Schmitt M, Jonveaux PH, Letteup B. 2004. Terminal deletion of the long arm of chromosome 10. Clin Genet 65:294-298.
79. Shabtai F, Eilam N, Eilan E, Halbrecht I. 1981. A new family with a satellited Y. Ann Genet 24:223-225.
80. Shah HO, Verma RS, Conte RA, Chester M, Shklovskaya TV, Kleyman SM, Diar-Barrios V, Feldman B, Lin JH, Sherman J. 1997. Fishing for origin of satellite on the long arm of chromosome 4. Am J Hum Genet 61:A375.
81. Shapiro SD, Hansen KL, Pasztor LM, DiLiberti JH, Jorgenson RJ, Young RS, Moore CM. 1985. Deletions of the long arm of chromosome 10. Am J Med Genet 20:181-196.
82. Stetten G, Sroka B, Schmidt M, Axelman J, Migeon BR. 1986. Translocation of the nucleolus organizer region to the human X chromosome. Am J Hum Genet 39:245-252.
83. Storto PD, Diehn TN, O'Malley DP, Bullard BA, Netzloff ML, Van Dyke DL, Feldman GL, Precht KS, Ledbetter DH, Lese CM. 1999. Satellited chromosome 10 detected prenatally in a fetus and confirmed as mosaic in a parent. Prenat Diagn 19:1088-1089.
84. Suzuki Y, Sasagawa I, Nakada T, Onmura Y. 1998. Bilateral cryptorchidism associated with terminal deletion of 10q. Urol Int 61:186-187.
85. Tanabe S, Akiba T, Katoh M, Satoh T. 1999. Terminal deletion of chromosome 10q: Clinical features and literature review. Pediatr Int 41:565-567.
86. Taysi K, Strauss AW, Yang V, Padmalatha C, Marshall RE. 1982. Terminal deletion of the long arm of chromosome 10: q26 to qter. Case report and review of literature. Ann Genet 25:141-144.
87. Teyssier M, Charrin C, Dutruge J, Rousselle C. 1992. Monosomy 10qter: A new case. J Med Genet 29:342-343.
88. Tomkins DJ. 1981. Unstable familial translocations: A t(11;22)mat inherited as a t(11;15). Am J Hum Genet 33:745-751.
89. Turleau C, de Grouchy J, Powset G, Bauygues D. 1979. Monosomy 10qter. Hum Genet 47:233-237.
90. Vanlieferinghen R, Dechelotte P, Charbonne F. 1987. Deletion partielle 10qter. Ann Genet 30:118-121.
91. Van Tuinen R, Strong LC, Pathak S. 1983. Reduced NOR association frequency in a 13/18 translocation chromosome: A family study. Hum Genet 65:82-84.
92. Varley JM, Gordas J, Hulten M. 1981. Familial reciprocal translocation t(9;13) (p11;p12) investigated by silver staining and in situ hybridization. Hum Genet 59:422-428.
93. Velissariou V, Antoniadi T, Patsalis PC, Christopoulou S, Hatzipouliou A, Donoghue J, Bakou K, Kaminopetros P, Athanassiou V, Petersen MB. 2001. Prenatal diagnosis of two rare de novo structural aberrations of the Y chromosome. Cytogenetic and molecular analysis. Prenat Diagn 21:484-487.
94. Velissariou V, Sismani C, Christopoulou S, Kaminopetros P, Hatzaki A, Evangelidou P, Koumbaris G, Bartsocas CS, Stylianidou G, Skordis N, Diakoumakos A, Patsalis PC. 2007. Loss of the Y chromosome PAR2 region and additional rearrangements in two familial cases of satellited Y chromosomes: Cytogenetic and molecular analysis. Eur J Med Genet 50:291-300.
95. Verellen-Dumoulin C, Freud M, De Meyer R, Laterre C, Frederic J, Thompson MW, Markovic VD. 1984. Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome. Hum Genet 67:115-119.
96. Verma RS, Grogineti SK, Kleyman SM, Conte RA. 1997. Characterisation of a satellited non-fluorescent Y chromosome (Y[nfqs]) by FISH. J Med Genet 34:817-818.
97. Villa N, Sala E, Colombo D, Griori D, Dalpra L. 1998. Reproductive outcome in a family with a satellited chromosome 1. Eur J Hum Genet 6:58.
98. Waggoner DJ, Chow CK, Dowton SB, Watson MS. 1999. Partial monosomy of distal 10q: Three new cases and a review. Am J Med Genet 86:1-15.
99. Wang BT, Chen M. 2004. Redundant skin over the nape in a girl with monosomy 1p36 caused by a de-novo satellited derivative chromosome: A possible new feature? Clin Dysmorphol 13:107-109.
100. Watt JL, Couzin DA, Lloyd DJ, Stephen GS, Mckay E. 1984. A familial insertion involving an active nucleolar organizer within chromosome 12. J Med Genet 21:379-384.
101. Weise A, Starke H, Heller A, Tönnies H, Volleth M, Stumm M, Gabriele S, Nietzel A, Claussen U, Liehr T. 2002. Chromosome 2 aberrations in clinical cases characterised by high resolution multicolour banding and region specific FISH probes. J Med Genet 39:434-439.
102. Wilkie AO, Campbell FM, Daubeney P, Grant DB, Daniels RJ, Mullarkey M, Affara NA, Fitchett M, Huson SM. 1993. Complete and partial XY sex reversal associated with terminal deletion of 10q: Report of 2 cases and literature review. Am J Med Genet 46:597-600.
103. Wilkinson TA, Crolla JA. 1993. Molecular cytogenetic characterization of three familial cases of satellited Y chromosomes. Hum Genet 91:389-391.
104. Willatt L, Green AJ, Trump D. 2001. Satellites on the terminal short arm of chromosome 12 (12ps), inherited through several generations in three families: A new variant without phenotypic effect. J Med Genet 38:723-727.
105. Wu KH, Yu MT, Tsai FJ, Tsai CH. 2002. Monosomy of chromosome 10q26 with mild psychomotor retardation: Report of one case. Acta Paediatr Taiwan 43:153-156.
106. Wulfsberg EA, Weaver RP, Cunniff CM, Jones MC, Jones KL. 1989. Chromosome 10qter deletion syndrome: A review and report of three new cases. Am J Med Genet 32:364-367.
107. Zatterale A, Pagano L, Fioretti G, Caniglia M, Festa B, Renda S, Rivaldi MM, Ventruto V. 1983. Clinical features of monosomy 10qter. Ann Genet 26:106-108.