Chromosomal anomalies in the etiology of anorectal malformations: A review

American Journal of Medical Genetics, Part A

Volumn 155, Issue 11, 2011, Pages 2692-2704

  Marcelis, Carlo ^a   de Blaauw, Ivo ^a,b   Brunner, Han ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Anorectal malformation; Chromosomal abnormality

Indexed keywords

ANORECTAL MALFORMATION; ARTICLE; CHROMOSOME 1; CHROMOSOME 10; CHROMOSOME 11; CHROMOSOME 12; CHROMOSOME 13; CHROMOSOME 16; CHROMOSOME 18; CHROMOSOME 21; CHROMOSOME 22; CHROMOSOME 3; CHROMOSOME 6; CHROMOSOME 7; CHROMOSOME 9; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME IDENTIFICATION; CHROMOSOME MOSAICISM; GENETIC ASSOCIATION; GENETIC VARIABILITY; HLXB9 GENE; HUMAN; MOLECULAR PATHOLOGY; MUTATOR GENE; PARTIAL TRISOMY; PARTIAL TRISOMY 12; PENETRANCE; PRIORITY JOURNAL; TETRASOMY; TRISOMY; TRISOMY 13; TRISOMY 16; TRISOMY 18; TRISOMY 21; TRISOMY 22; TRISOMY 9;

ABNORMALITIES, MULTIPLE; ANAL CANAL; ANUS, IMPERFORATE; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN; DATABASES, GENETIC; GENETIC TESTING; HUMANS; PHENOTYPE;

EID: 80054892453     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34253     Document Type: Article

References (157)

1. Abe K, Deng HX, Harada N, Yoshiura K, Oh-Hira T, Niikawa N. 1990. Monosomy for 21pter-q21: Case report and assignment of a DNA clone (Fr8-77) to the deleted segment. Jinrui Idengaku Zasshi 35:303-310.
2. Allderdice PW, Davis JG, Miller OJ, Klinger HP, Warburton D, Miller DA, Allen FH, Jr., Abrams CA, McGilvray E. 1969. The 13q-deletion syndrome. Am J Hum Genet 21:499-512.
3. Anneren G, Sedin G. 1981. Case report. Trisomy 9 syndrome. Acta Paediatr Scand 70:125-128.
4. Antich J, Carbonell X, Mas J, Clusellas N. 1983. De novo interstitial deletion of the long arm of chromosome 2 in a malformed newborn with a karyotype: 46, XY, del(2)(q12q14). Acta Paediatr Scand 72:631-633.
5. Asai M, Ito Y, Iguchi T, Ito J, Okada N, Oishi H. 1992. Terminal deletion of the short arm of chromosome 3. Jpn J Hum Genet 37:163-168.
6. Baglaj M, King J, Carachi R. 2008. Pallister-Killian syndrome: A report of 2 cases and review of its surgical aspects. J Pediatr Surg 43:1218-1221.
7. Bamforth JS, Lin CC. 1997. DK phocomelia phenotype (von Voss-Cherstvoy syndrome) caused by somatic mosaicism for del(13q). Am J Med Genet 73:408-411.
8. Bardakjian TM, Schneider AS, Ng D, Johnston JJ, Biesecker LG. 2009. Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes. BMC Med Genet 10:137.
9. Bartsch O, Kuhnle U, Wu LL, Schwinger E, Hinkel GK. 1996. Evidence for a critical region for penoscrotal inversion, hypospadias, and imperforate anus within chromosomal region 13q32.2q34. Am J Med Genet 65:218-221.
10. Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, Donald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC. 2008. Further delineation of deletion 1p36 syndrome in 60 patients: A recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics 121:404-410.
11. Benn P. 1998. Trisomy 16 and trisomy 16 Mosaicism: A review. Am J Med Genet 79:121-133.
12. Benn A, Warburton D, Byrne JM, Rudelli R, Shonhaut A, Yeboa K, Mootabar H, Hsu LY. 1983. A fetus with a chromosome 13 ring and placenta with chromosome 13 rod/ring mosaicism. Prenat Diagn 3:297-302.
13. Bertini V, De Vito G, Costa R, Simi P, Valetto A. 2006. Isolated 6q terminal deletions: An emerging new syndrome. Am J Med Genet Part A 140A:74-81.
14. Bianca S, Ettore G. 2000. Anorectal malformations and Down's syndrome. Paediatr Perinat Epidemiol 14:372.
15. Biles AR, Jr., Luers T, Sperling K. 1970. D1 ring chromosome in newborn with peculiar face, polydactyly, imperforate anus, arrhinencephaly, and other malformations. J Med Genet 7:399-401.
16. Black CT, Sherman JO. 1989. The association of low imperforate anus and Down's syndrome. J Pediatr Surg 24:92-94.
17. Borozdin W, Steinmann K, Albrecht B, Bottani A, Devriendt K, Leipoldt M, Kohlhase J. 2006. Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome. Hum Mutat 27:211-212.
18. Brown S, Gersen S, Nyane-Yeboa K, Warburton D. 1993. Preliminary definition of a "critical region" of chromosome 13 in q32: Report of 14 cases with 13q deletions and review of the literature. Am J Med Genet 45:52-59.
19. Brown S, Russo J, Chitayat D, Warburton D. 1995. The 13q-syndrome: The molecular definition of a critical deletion region in band 13q32. Am J Hum Genet 57:859-866.
20. Brusnicky J, van Heerden KM, de Jong G, Cronje AS, Retief AE. 1986. Severe mental retardation in six generations of a large South African family carrying a translocation t(6;10)(q27;q25.2). J Med Genet 23:435-445.
21. Cantu ES, Eicher DJ, Pai GS, Donahue CJ, Harley RA. 1996. Mosaic vs. nonmosaic trisomy 9: Report of a liveborn infant evaluated by fluorescence in situ hybridization and review of the literature. Am J Med Genet 62:330-335.
22. Carmichael A, Addy DP, Shortland-Webb WR, Cameron AH, Davies IC. 1977. 13q-syndrome. Family study. Arch Dis Child 52:972-974.
23. Chen CP, Chern SR, Lee CC, Town DD. 1998. Isochromosome 18q in a fetus with congenital megacystis, intra-uterine growth retardation and cloacal dysgenesis sequence. Prenat Diagn 18:1068-1074.
24. Chiesa J, Hoffet M, Rousseau O, Bourgeois JM, Sarda P, Mares P, Bureau JP. 1998. Pallister-Killian syndrome [i(12p)]: First pre-natal diagnosis using cordocentesis in the second trimester confirmed by in situ hybridization. Clin Genet 54:294-302.
25. Cho S, Moore SP, Fangman T. 2001. One hundred three consecutive patients with anorectal malformations and their associated anomalies. Arch Pediatr Adolesc Med 155:587-591.
26. Choy KW, Chan LW, Tang MH, Ng LK, Leung TY, Lau TK. 2009. Prenatal findings and delineation of de novo concurrent partial trisomy 7q(7q31.2→qter) and partial monosomy 6q(6q26→qter) by high-resolution array CGH. J Matern Fetal Neonatal Med 22:1014-1020.
27. Christofolini DM, Yoshimoto M, Squire JA, Brunoni D, Melaragno MI, Carvalheira G. 2006. Hydrocephaly, penoscrotal transposition, and digital anomalies associated with de novo pseudodicentric rearranged chromosome 13 characterized by classical cytogenetic methods and mBAND analysis. Am J Med Genet Part A 140A:1321-1325.
28. Cinti R, Priolo M, Lerone M, Gimelli G, Seri M, Silengo M, Ravazzolo R. 2001. Molecular characterisation of a supernumerary ring chromosome in a patient with VATER association. J Med Genet 38:E6.
29. Conley ME, Beckwith JB, Mancer JF, Tenckhoff L. 1979. The spectrum of the DiGeorge syndrome. J Pediatr 94:883-890.
30. Cook L, Hartsfield JK, Jr., Vance GH. 1998. Partners with reciprocal translocations: Genetic counseling for the 'double translocation'. Clin Genet 53:403-407.
31. Courtens W, Wuyts W, Rooms L, Pera SB, Wauters J. 2006. A subterminal deletion of the long arm of chromosome 10: A clinical report and review. Am J Med Genet Part A 140A:402-409.
32. Cretolle C, Pelet A, Sanlaville D, Zerah M, Amiel J, Jaubert F, Revillon Y, Baala L, Munnich A, Nihoul-Fekete C, Lyonnet S. 2008. Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation. Hum Mutat 29:903-910.
33. Crolla JA, Howard P, Mitchell C, Long FL, Dennis NR. 1997. A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker(22) chromosomes. Am J Med Genet 72:440-447.
34. Cuschieri A. 2001. Descriptive epidemiology of isolated anal anomalies: A survey of 4.6 million births in Europe. Am J Med Genet 103:207-215.
35. Cuschieri A. 2002. Anorectal anomalies associated with or as part of other anomalies. Am J Med Genet 110:122-130.
36. Cusick W, Bork M, Fabri B, Benn P, Rodis JF, Buttino L, Jr. 1995. Trisomy 16 fetus surviving into the second trimester. Prenat Diagn 15:1078-1081.
37. Dawson AJ, Marles SL, Harman CR, Phillips S, Menticoglou S. 1995. Prenatal diagnosis of ring chromosome 6. Prenat Diagn 15:872-874.
38. Delicado A, Iniguez L, Lopez PI, Omenaca F. 1985. Complete trisomy 9. Two additional cases. Ann Genet 28:63-66.
39. Diaz-Mares L, Molina B, Carnevale A. 1990. Trisomy 9 mosaicism in a girl with multiple malformations. Ann Genet 33:165-168.
40. Dravis C, Yokoyama N, Chumley MJ, Cowan CA, Silvany RE, Shay J, Baker LA, Henkemeyer M. 2004. Bidirectional signaling mediated by ephrin-B2 and EphB2 controls urorectal development. Dev Biol 271:272-290.
41. Eggermann T, Curtis M, Zerres K, Hughes HE. 2004. Maternal uniparental disomy 16 and genetic counseling: New case and survey of published cases. Genet Couns 15:183-190.
42. Elder FF, Ferguson JW, Lockhart LH. 1984. Identical twins with deletion 16q syndrome: Evidence that 16q12.2-q13 is the critical band region. Hum Genet 67:233-236.
43. El-Hattab AW, Skorupski JC, Hsieh MH, Breman AM, Patel A, Cheung SW, Craigen WJ. 2010. OEIS complex associated with chromosome 1p36 deletion: A case report and review. Am J Med Genet Part A 152A:504-511.
44. Elia M, Striano P, Fichera M, Gaggero R, Castiglia L, Galesi O, Malacarne M, Pierluigi M, Amato C, Musumeci SA, Romano C, Majore S, Grammatico P, Zara F, Striano S, Faravelli F. 2006. 6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: A report of five cases. Epilepsia 47:830-838.
45. Endo M, Hayashi A, Ishihara M, Maie M, Nagasaki A, Nishi T, Saeki M. 1999. Analysis of 1, 992 patients with anorectal malformations over the past two decades in Japan. Steering Committee of Japanese Study Group of Anorectal Anomalies. J Pediatr Surg 34:435-441.
46. Feenstra I, Fang J, Koolen DA, Siezen A, Evans C, Winter RM, Lees MM, Riegel M, de Vries BB, Van Ravenswaaij CM, Schinzel A. 2006. European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities. Eur J Med Genet 49:279-291.
47. Fraccaro M, Lindsten J, Ford CE, Iselius L. 1980. The 11q;22q translocation: A European collaborative analysis of 43 cases. Hum Genet 56:21-51.
48. Fujimoto Y, Okuyama T, Iijima M, Tanaka T, Horikawa R, Yamada K, Ogata T. 2004. Genitourinary phenotype in XX patients with distal 9p monosomy. Mol Genet Metab 82:173-179.
49. Gabarron J, Glover G, Jimenez A, Lamata E. 1985. Pseudoisodicentric bisatellited extra marker chromosome (tetrasomy 22pter--q11, trisomy Yqh), derived from a maternal Y/22 translocation. Association between this tetrasomy and "cat eye" phenotypical features. Clin Genet 28:509-515.
50. Gajecka M, Mackay KL, Shaffer LG. 2007. Monosomy 1p36 deletion syndrome. Am J Med Genet Part C 145C:346-356.
51. Garau A, Crisponi G, Peretti D, Vanni R, Zuffardi O. 1980. Trisomy 16q21=to qter. Hum Genet 53:165-167.
52. Garcia NM, Allgood J, Santos LJ, Lonergan D, Batanian JR, Henkemeyer M, Bartsch O, Schultz RA, Zinn AR, Baker LA. 2006. Deletion mapping of critical region for hypospadias, penoscrotal transposition and imperforate anus on human chromosome 13. J Pediatr Urol 2:233-242.
53. Gershoni-Baruch R, Zekaria D. 1996. Deletion (13)(q22) with multiple congenital anomalies, hydranencephaly and penoscrotal transposition. Clin Dysmorphol 5:289-294.
54. Grossfeld PD, Mattina T, Lai Z, Favier R, Jones KL, Cotter F, Jones C. 2004. The 11q terminal deletion disorder: A prospective study of 110 cases. Am J Med Genet Part A 129A:51-61.
55. Guala A, Dellavecchia C, Mannarino S, Rognone F, Giglio S, Minelli A, Danesino C. 1997. Ring chromosome 13 with loss of the region D13S317-D13S285: Phenotypic overlap with XK syndrome. Am J Med Genet 72:319-323.
56. Halal F, Vekemans M, Der Kaloustian V. 1989. A presumptive translocation 1p;2q resulting in duplication 1p and deletion 2q. Am J Med Genet 32:376-379.
57. Hassink EA, Rieu PN, Hamel BC, Severijnen RS, vd Staak FH, Festen C. 1996. Additional congenital defects in anorectal malformations. Eur J Pediatr 155:477-482.
58. Hatanaka K, Ozaki M, Suzuki M, Murata R, Fujita H. 1984. Trisomy 16q13--qter in a infant from a t(11;16)(q25;q13) translocation-carrier father. Hum Genet 65:311-315.
59. Hoo JJ, Robertson A, Fowlow SB, Bowen P, Lin CC. 1986. Inverted duplication of 22pter--q11.21 in cat-eye syndrome. Am J Med Genet 24:543-545.
60. Horn D, Tonnies H, Neitzel H, Wahl D, Hinkel GK, von Moers A, Bartsch O. 2004. Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3. Am J Med Genet Part A 128A:85-92.
61. Houlston RS, Renshaw RM, James RS, Ironton R, Temple IK. 1994. Duplication of 16q22→qter confirmed by fluorescence in situ hybridisation and molecular analysis. J Med Genet 31:884-887.
62. Ing PS, Lubinsky MS, Smith SD, Golden E, Sanger WG, Duncan AM. 1987. Cat-eye syndrome with different marker chromosomes in a mother and daughter. Am J Med Genet 26:621-628.
63. Iselius L, Faxelius G. 1978. Trisomy 22 in a newborn girl with multiple malformations. Hereditas 89:269-271.
64. Iselius L, Lindsten J, Aurias A, Fraccaro M, Bastard C, Bottelli AM, Bui TH, Caufin D, Dalpra L, Delendi N. 1983. The 11q;22q translocation: A collaborative study of 20 new cases and analysis of 110 families. Hum Genet 64:343-355.
65. Kallen B, Mastroiacovo P, Robert E. 1996. Major congenital malformations in Down syndrome. Am J Med Genet 65:160-166.
66. Kalousek DK, Langlois S, Barrett I, Yam I, Wilson DR, Howard-Peebles PN, Johnson MP, Giorgiutti E. 1993. Uniparental disomy for chromosome 16 in humans. Am J Hum Genet 52:8-16.
67. Kasyan AG, Benirschke K. 2005. Genetic haploinsufficiency as a phenotypic determinant of a deletion 13q syndrome. Pediatr Dev Pathol 8:658-665.
68. Kirchhoff M, Bisgaard AM, Stoeva R, Dimitrov B, Gillessen-Kaesbach G, Fryns JP, Rose H, Grozdanova L, Ivanov I, Keymolen K, Fagerberg C, Tranebjaerg L, Skovby F, Stefanova M. 2009. Phenotype and 244k array-CGH characterization of chromosome 13q deletions: An update of the phenotypic map of 13q21.1-qter. Am J Med Genet Part A 149A:894-905.
69. Knoblauch H, Thiel G, Tinschert S, Korner H, Tennstedt C, Chaoui R, Kohlhase J, Dixkens C, Blanck C. 2000. Clinical and molecular cytogenetic studies of a large de novo interstitial deletion 16q11.2-16q21 including the putative transcription factor gene SALL1. J Med Genet 37:389-392.
70. Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W. 1998. Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. Nat Genet 18:81-83.
71. Kosaki R, Fukuhara Y, Kosuga M, Okuyama T, Kawashima N, Honna T, Ueoka K, Kosaki K. 2005. OEIS complex with del(3)(q12.2q13.2). Am J Med Genet Part A 135A:224-226.
72. Kuhnle U, Bartsch O, Werner W, Schuster T. 2000. Penoscrotal inversion, hypospadias, imperforate anus, facial anomalies, and developmental delay: Definition of a new clinical syndrome. Pediatr Surg Int 16:396-399.
73. Lam FW, Chan WK, Lam ST, Chu WP, Kwong NS. 2000. Proximal 10q trisomy: A new case with anal atresia. J Med Genet 37:E24.
74. Lazjuk GI, Lurie IW, Kirillova IA, Zaletajev DV, Gurevich DB, Shved IA, Ostrovskaya TI. 1985. Partial trisomy 5q and partial monosomy 5q within the same family. Clin Genet 28:122-129.
75. Leegte B, Kerstjens-Frederikse WS, Deelstra K, Begeer JH, van Essen AJ. 1999. 11q-syndrome: Three cases and a review of the literature. Genet Couns 10:305-313.
76. Lewandowski RC, Jr., Kukolich MK, Sears JW, Mankinen CB. 1978. Partial deletion 10q. Hum Genet 42:339-343.
77. Liehr T, Pfeiffer RA, Trautmann U. 1992. Typical and partial cat eye syndrome: Identification of the marker chromosome by FISH. Clin Genet 42:91-96.
78. Lynch SA, Wang Y, Strachan T, Burn J, Lindsay S. 2000. Autosomal dominant sacral agenesis: Currarino syndrome. J Med Genet 37:561-566.
79. Mansouri MR, Carlsson B, Davey E, Nordenskjold A, Wester T, Anneren G, Lackgren G, Dahl N. 2006. Molecular genetic analysis of a de novo balanced translocation t(6;17)(p21.31;q11.2) associated with hypospadias and anorectal malformation. Hum Genet 119:162-168.
80. Martuciello G. 2006. Genetics of anorectal malformations. In: Holschneider AM, Hutson JM, editors. Anorectal malformations in children. Heidelberg: Springer-Verlag. pp 31-48.
81. Maruyama K, Koizumi T, Ikeda H. 2001. Partial monosomy 10q with partial trisomy 11q due to paternal balanced translocation. J Paediatr Child Health 37:198-200.
82. Masuno M, Imaizumi K, Aida N, Tanaka Y, Sekido K, Ohhama Y, Nishi T, Kuroki Y. 1996. Currarino triad with a terminal deletion 7q35→qter. J Med Genet 33:877-878.
83. McLeod DR, Fowlow SB, Robertson A, Samcoe D, Burgess I, Hoo JJ. 1990. Chromosome 6q deletions: A report of two additional cases and a review of the literature. Am J Med Genet 35:79-84.
84. McLeod DR, Wesselman LR, Hoar DI. 1991. Pallister-Killian syndrome: Additional manifestations of cleft palate and sacral appendage. J Med Genet 28:541-543.
85. McPherson E, Huff D, Dunn J, Muenke M. 2004. Anomalies of the forebrain with radial limb defects: Garcia-Lurie-Steinfeld syndrome? Birth Defects Res A Clin Mol Teratol 70:537-544.
86. Meng J, Fujita H, Nagahara N, Kashiwai A, Yoshioka Y, Funato M. 1992. Two patients with chromosome 6q terminal deletions with breakpoints at q24.3 and q25.3. Am J Med Genet 43:747-750.
87. Metts JC III, Kotkin L, Kasper S, Shyr Y, Adams MC, Brock JW III. 1997. Genital malformations and coexistent urinary tract or spinal anomalies in patients with imperforate anus. J Urol 158:1298-1300.
88. Mo R, Kim JH, Zhang J, Chiang C, Hui CC, Kim PC. 2001. Anorectal malformations caused by defects in sonic hedgehog signaling. Am J Pathol 159:765-774.
89. Moore GE, Ali Z, Khan RU, Blunt S, Bennett PR, Vaughan JI. 1997. The incidence of uniparental disomy associated with intrauterine growth retardation in a cohort of thirty-five severely affected babies. Am J Obstet Gynecol 176:294-299.
90. Muroya K, Okuyama T, Goishi K, Ogiso Y, Fukuda S, Kameyama J, Sato H, Suzuki Y, Terasaki H, Gomyo H, Wakui K, Fukushima Y, Ogata T. 2000. Sex-determining gene(s) on distal 9p: Clinical and molecular studies in six cases. J Clin Endocrinol Metab 85:3094-3100.
91. Nagai T, Katoh R, Hasegawa T, Ohashi H, Fukushima Y. 1994. Currarino triad (anorectal malformation, sacral bony abnormality and presacral mass) with partial trisomy of chromosomes 13q and 20p. Clin Genet 45:272-273.
92. Niebuhr E. 1977. Partial trisomies and deletions of chromosome 13. In: Yunis JJ, editor. New chromosomal syndromes. New York: Academic Press. pp. 273-299.
93. Niikawa N, Tamura T, Tomiyasu F, Kajii T. 1980. 13q-/r(13) mosaicism. J Med Genet 17:316-319.
94. Ogata T, Muroya K, Sasagawa I, Kosho T, Wakui K, Sakazume S, Ito K, Matsuo N, Ohashi H, Nagai T. 2000. Genetic evidence for a novel gene(s) involved in urogenital development on 10q26. Kidney Int 58:2281-2290.
95. Parida SK, Hall BD, Barton L, Fujimoto A. 1995. Penoscrotal transposition and associated anomalies: Report of five new cases and review of the literature. Am J Med Genet 59:68-75.
96. Parkin CA, Allen CE, Ingham PW. 2009. Hedgehog signalling is required for cloacal development in the zebrafish embryo. Int J Dev Biol 53:45-57.
97. Pauli RM, Zeier RA, Sekhon GS. 1987. Mosaic isochromosome 12p. Am J Med Genet 27:291-294.
98. Peeden JN, Scarbrough P, Taysi K, Wilroy RS, Finley S, Luthardt F, Martens P, Howard-Peebles PN. 1983. Ring chromosome 6: Variability in phenotypic expression. Am J Med Genet 16:563-573.
99. Pinke LA, Rathbun SR, Husmann DA, Kramer SA. 2001. Penoscrotal transposition: Review of 53 patients. J Urol 166:1865-1868.
100. Pirola B, Bortotto L, Giglio S, Piovan E, Janes A, Guerrini R, Zuffardi O. 1998. Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25. J Med Genet 35:1031-1033.
101. Prieto JC, Garcia NM, Elder FF, Zinn AR, Baker LA. 2007. Phenotypic expansion of the supernumerary derivative (22) chromosome syndrome: VACTERL and Hirschsprung's disease. J Pediatr Surg 42:1928-1932.
102. Puvabanditsin S, Garrow E, Zia-Ullah MO, Supavekin S, Lianthanasarn P, Denev KI. 2001. Monosomy 11Q: Report of new phenotypic manifestations. Genet Couns 12:283-286.
103. Quelin C, Bendavid C, Dubourg C, de la Rochebrochard C, Lucas J, Henry C, Jaillard S, Loget P, Loeuillet L, Lacombe D, Rival JM, David V, Odent S, Pasquier L. 2009. Twelve new patients with 13q deletion syndrome: Genotype-phenotype analyses in progress. Eur J Med Genet 52:41-46.
104. Reifen RM, Gale R, Kerem E, Armon Y, Brand A, Dagan J, Kohn G. 1986. Partial deletion of the short arm of chromosome 3: Further delineation of the 3p25-3pter syndrome. Clin Genet 30:127-130.
105. Reish O, Berry SA, Dewald G, King RA. 1996. Duplication of 7p: Further delineation of the phenotype and restriction of the critical region to the distal part of the short arm. Am J Med Genet 61:21-25.
106. Reynolds JD, Golden WL, Zhang Y, Hiles DA. 1984. Ocular abnormalities in terminal deletion of the long arm of chromosome seven. J Pediatr Ophthalmol Strabismus 21:28-32.
107. Reynolds JF, Daniel A, Kelly TE, Gollin SM, Stephan MJ, Carey J, Adkins WN, Webb MJ, Char F, Jimenez JF. 1987. Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): Report of 11 cases. Am J Med Genet 27:257-274.
108. Ridler MA, McKeown JA. 1979. Trisomy 16q arising from a maternal 15p;16q translocation. J Med Genet 16:317-320.
109. Roessler E, Belloni E, Gaudenz K, Jay P, Berta P, Scherer SW, Tsui LC, Muenke M. 1996. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat Genet 14:357-360.
110. Ross AJ, Ruiz-Perez V, Wang Y, Hagan DM, Scherer S, Lynch SA, Lindsay S, Custard E, Belloni E, Wilson DI, Wadey R, Goodman F, Orstavik KH, Monclair T, Robson S, Reardon W, Burn J, Scambler P, Strachan T. 1998. A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Nat Genet 20:358-361.
111. Saneto RP, Applegate KE, Frankel DG. 1998. Atypical manifestations of two cases of trisomy 9 syndrome: Rethinking development delay. Am J Med Genet 80:42-45.
112. Scheuerle A, Heller K, Elder F. 2005. Complete trisomy 1q with mosaic Y;1 translocation: A recurrent aneuploidy presenting diagnostic dilemmas. Am J Med Genet Part A 138A:166-170.
113. Schinzel A. 1981. Incomplete trisomy 22. III. Mosaic-trisomy 22 and the problem of full trisomy 22. Hum Genet 56:269-273.
114. Schinzel A. 2001. Catalogue of unbalanced chromosome aberrations in man. Berlin-New York: de Gruyter.
115. Schinzel A, Schmid W, Fraccaro M, Tiepolo L, Zuffardi O, Opitz JM, Lindsten J, Zetterqvist P, Enell H, Baccichetti C, Tenconi R, Pagon RA. 1981a. The "cat eye syndrome": Dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture. Hum Genet 57:148-158.
116. Schinzel A, Schmid W, Auf der Maur P, Moser H, Degenhardt KH, Geisler M, Grubisic A. 1981b. Incomplete trisomy 22. I. Familial 11/22 translocation with 3:1 meiotic disjunction. Delineation of a common clinical picture and report of nine new cases from six families. Hum Genet 56:249-262.
117. Schramm C, Draaken M, Bartels E, Boemers TM, Schmiedeke E, Grasshoff-Derr S, Marzheuser S, Hosie S, Holland-Cunz S, Baudisch F, Priebe L, Hoffmann P, Zink AM, Engels H, Brockschmidt FF, Aretz S, Nothen MM, Ludwig M, Reutter H. 2011. De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation. Am J Med Genet Part A 155A:445-449.
118. Schulze BR, Tariverdian G, Komposch G, Stellzig A. 2001. Misclassification risk of patients with bilateral cleft lip and palate and manifestations of median facial dysplasia: A new variant of del(22q11.2) syndrome? Am J Med Genet 99:280-285.
119. Scigliano S, Gregoire MJ, Schmitt M, Jonveaux PH, LeHeup B. 2004. Terminal deletion of the long arm of chromosome 10. Clin Genet 65:294-298.
120. Seller MJ, Fear C, Kumar A, Mohammed S. 2004. Trisomy 16 in a mid-trimester IVF foetus with multiple abnormalities. Clin Dysmorphol 13:187-189.
121. Slater HR, Voullaire LE, Vaux CE, Bankier A, Pertile M, Choo KH. 1993. Confirmation of trisomy 22 in two cases using chromosome painting: Comparison with t(11;22). Am J Med Genet 46:434-437.
122. Slavotinek A, Rosenberg M, Knight S, Gaunt L, Fergusson W, Killoran C, Clayton-Smith J, Kingston H, Campbell RH, Flint J, Donnai D, Biesecker L. 1999. Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres. J Med Genet 36:405-411.
123. Smeets D, van Ravenswaaij C, de Pater J, Gerssen-Schoorl K, van Hemel J, Janssen G, Smits A. 1997. At least nine cases of trisomy 11q23→qter in one generation as a result of familial t(11;13) translocation. J Med Genet 34:18-23.
124. Spouge D, Baird PA. 1986. Imperforate anus in 700, 000 consecutive liveborn infants. Am J Med Genet Suppl 2:151-161.
125. Stamberg J, Shapiro J, Valle D, Kuhajda FP, Thomas G, Wissow L. 1981. Partial trisomy 6q, due to balanced maternal translocation (6;22) (q21; p13) or (q21; pter). Clin Genet 19:122-125.
126. Stankiewicz P, Sen P, Bhatt SS, Storer M, Xia Z, Bejjani BA, Ou Z, Wiszniewska J, Driscoll DJ, Maisenbacher MK, Bolivar J, Bauer M, Zackai EH, Donald-McGinn D, Nowaczyk MM, Murray M, Hustead V, Mascotti K, Schultz R, Hallam L, McRae D, Nicholson AG, Newbury R, Durham-O'Donnell J, Knight G, Kini U, Shaikh TH, Martin V, Tyreman M, Simonic I, Willatt L, Paterson J, Mehta S, Rajan D, Fitzgerald T, Gribble S, Prigmore E, Patel A, Shaffer LG, Carter NP, Cheung SW, Langston C, Shaw-Smith C. 2009. Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet 84:780-791.
127. Stengel-Rutkowski S, Albert A, Murken JD, Zahn-Messow K, Rodewald A, Zankl M, Saule H, Stene J. 1981. New chromosomal dysmorphic syndromes. 4. Trisomy 12p. Eur J Pediatr 136:249-262.
128. Stratton RF, Tolworthy JA, Young RS. 1994. Deletion (2)(q37). Am J Med Genet 51:153-155.
129. Striano P, Malacarne M, Cavani S, Pierluigi M, Rinaldi R, Cavaliere ML, Rinaldi MM, De BC, Coppola A, Pintaudi M, Gaggero R, Grammatico P, Striano S, Dallapiccola B, Zara F, Faravelli F. 2006. Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases. Am J Med Genet Part A 140A:1944-1949.
130. Su PH, Chen JY, Chen SJ, Yang MS, Liu YL. 2006. Basilar artery dolichoectasia in a boy with a combination of partial monosomy 18p and partial trisomy 20q. Clin Dysmorphol 15:225-228.
131. Takano T, Yamanouchi Y, Mori Y, Kudo S, Nakayama T, Sugiura M, Hashira S, Abe T. 1997. Interstitial deletion of chromosome 1q [del(1)(q24q25.3)] identified by fluorescence in situ hybridization and gene dosage analysis of apolipoprotein A-II, coagulation factor V, and antithrombin III. Am J Med Genet 68:207-210.
132. Tejada MI, Uribarren A, Briones P, Vilaseca MA. 1992. A further prenatal diagnosis of mosaic tetrasomy 12p (Pallister-Killian syndrome). Prenat Diagn 12:529-534.
133. Thauvin-Robinet C, Faivre L, Cusin V, Khau Van KP, Callier P, Parker KL, Fellous M, Borgnon J, Gounot E, Huet F, Sapin E, Mugneret F. 2004. Cloacal exstrophy in an infant with 9q34.1-qter deletion resulting from a de novo unbalanced translocation between chromosome 9q and Yq. Am J Med Genet Part A 126A:303-307.
134. Titomanlio L, Giurgea I, Baumann C, Elmaleh M, Sachs P, Chalard F, Aboura A, Verloes A. 2006. A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3Mb interval region. Eur J Hum Genet 14:971-974.
135. Torfs CP, Bateson TF, Curry CJ. 1992. Anorectal and esophageal anomalies with Down syndrome. Am J Med Genet 44:847-850.
136. Torres R, Levitt MA, Tovilla JM, Rodriguez G, Pena A. 1998. Anorectal malformations and Down's syndrome. J Pediatr Surg 33:194-197.
137. Tsukuda T, Nagata I, Sawada H, Murakami J, Hanaki K, Urashima H, Kaneda T, Shimizu N, Kaibara N, Kodama N, Ohzeki T, Shiraki K. 1996. Partial monosomy 10q and partial trisomy 9q with anal atresia due to maternal translocation: t(9;10)(q32;q26). Clin Genet 50:220-222.
138. Urioste M, Martinez-Frias ML. 1991. Anorectal anomalies and Down syndrome. Am J Med Genet 39:493-494.
139. Van Allen MI, Ritchie S, Toi A, Fong K, Winsor E. 1993. Trisomy 4 in a fetus with cyclopia and other anomalies. Am J Med Genet 46:193-197.
140. van der Veeken LT, Dieleman MM, Douben H, van de Brug JC, van de Graaf R, Hoogeboom AJ, Poddighe PJ, de Klein A. 2010. Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies. Mol Cytogenet 3:13.
141. Vaughan J, Ali Z, Bower S, Bennett P, Chard T, Moore G. 1994. Human maternal uniparental disomy for chromosome 16 and fetal development. Prenat Diagn 14:751-756.
142. Verschraegen-Spae MR, van Roy N, de Perdigo A, De Paepe A, Speleman F. 1993. Molecular cytogenetic characterization of marker chromosomes found at prenatal diagnosis. Prenat Diagn 13:385-394.
143. von Bubnoff D, Kreiss-Nachtsheim M, Novak N, Engels E, Engels H, Behrend C, Propping P, de la Salle H, Bieber T. 2004. Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34-year-old patient with Jacobsen syndrome. Am J Med Genet Part A 126A:293-298.
144. Waggoner DJ, Chow CK, Dowton SB, Watson MS. 1999. Partial monosomy of distal 10q: Three new cases and a review. Am J Med Genet 86:1-5.
145. Walsh LE, Vance GH, Weaver DD. 2001. Distal 13q Deletion Syndrome and the VACTERL association: Case report, literature review, and possible implications. Am J Med Genet 98:137-144.
146. Wang J, Spitz L, Hayward R, Kiely E, Hall CM, O'Donoghue DP, Palmer R, Goodman FR, Scambler PJ, Winter RM, Reardon W. 1999. Sacral dysgenesis associated with terminal deletion of chromosome 7q: A report of two families. Eur J Pediatr 158:902-905.
147. Wax JR, Benn P, Steinfeld JD, Ingardia CJ. 2000. Prenatally diagnosed sacrococcygeal teratoma: A unique expression of trisomy 1q. Cancer Genet Cytogenet 117:84-86.
148. Wegner RD, Kunze J, Paust H. 1981. Monosomy 10qter due to a balanced familial translocation: t(10;16)(q25.2;q24). Clin Genet 19:130-133.
149. Wenger SL, Boone LY, Steele MW. 1990. Mosaicism in Pallister i(12p) syndrome. Am J Med Genet 35:523-525.
150. Worthington S, Colley A, Fagan K, Dai K, Lipson AH. 1997. Anal anomalies: An uncommon feature of velocardiofacial (Shprintzen) syndrome? J Med Genet 34:79-82.
151. 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.
152. Yamagishi H, Ishii C, Maeda J, Kojima Y, Matsuoka R, Kimura M, Takao A, Momma K, Matsuo N. 1998. Phenotypic discordance in monozygotic twins with 22q11.2 deletion. Am J Med Genet 78:319-321.
153. Yancey MK, Hardin EL, Pacheco C, Kuslich CD, Donlon TA. 1996. Non-mosaic trisomy 16 in a third-trimester fetus. Obstet Gynecol 87:856-860.
154. Yucel S, Dravis C, Garcia N, Henkemeyer M, Baker LA. 2007. Hypospadias and anorectal malformations mediated by Eph/ephrin signaling. J Pediatr Urol 3:354-363.
155. Zackai EH, Emanuel BS. 1980. Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction. Am J Med Genet 7:507-521.
156. Zackowski JL, Raffel LJ, McDaniel LD, Schwartz S. 1990. A paternal balanced translocation [t(7;22)(q32;q13.3)] leading to reciprocal unbalanced karyotypes in two consecutive pregnancies. Ann Genet 33:113-116.
157. Zlotogora J, Abu-Dalu K, Lernau O, Sagi M, Voss R, Cohen T. 1989. Anorectal malformations and Down syndrome. Am J Med Genet 34:330-331.