Chromosomal anomalies in the aetiology of oesophageal atresia and tracheo-oesophageal fistula

European Journal of Medical Genetics

Volumn 50, Issue 3, 2007, Pages 163-175

  Felix, Janine F ^a   Tibboel, Dick ^a   de Klein, Annelies ^b  

^a SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Chromosomes; Esophageal atresia; Human; Tracheoesophageal fistula

Indexed keywords

CHROMOSOME 1; CHROMOSOME 2; CHROMOSOME 3P; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CHROMOSOME DELETION 13; CHROMOSOME DELETION 13Q; CHROMOSOME DELETION 17Q; CHROMOSOME DELETION 5; CHROMOSOME TRANSLOCATION; DATA BASE; ESOPHAGUS ATRESIA; GENE IDENTIFICATION; HUMAN; INTERSTITIAL CHROMOSOME DELETION; KARYOTYPE; NONHUMAN; PARTIAL TRISOMY; PARTIAL TRISOMY 3P; REVIEW; STRUCTURAL CHROMOSOME ABERRATION; TRACHEOESOPHAGEAL FISTULA; TRIPLOIDY; TRISOMY 13; TRISOMY 18; TRISOMY 21;

ANEUPLOIDY; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; ESOPHAGEAL ATRESIA; FEMALE; HUMANS; MALE; NETHERLANDS; TRACHEOESOPHAGEAL FISTULA; TRANSLOCATION, GENETIC; TRISOMY;

FISTULA;

EID: 34248596548     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2006.12.004     Document Type: Review

References (86)

1. Antonini S., Kim C.A., Sugayama S.M., and Vianna-Morgante A.M. Delimitation of duplicated segments and identification of their parental origin in two partial chromosome 3p duplications. Am. J. Med. Genet. 113 (2002) 144-150
2. Aramaki M., Udaka T., Kosaki R., Makita Y., Okamoto N., Yoshihashi H., Oki H., Nanao K., Moriyama N., Oku S., Hasegawa T., Takahashi T., Fukushima Y., Kawame H., and Kosaki K. Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. J. Pediatr. 148 (2006) 410-414
3. Baccichetti C., Lenzini E., Artifoni L., Caufin D., and Marangoni P. Terminal deletion of the short arm of chromosome 5. Clin. Genet. 34 (1988) 219-223
4. Brown S., Russo J., Chitayat D., and Warburton D. The 13q- syndrome: the molecular definition of a critical deletion region in band 13q32. Am. J. Hum. Genet. 57 (1995) 859-866
5. Bruni L., Basili R., Capolino R., Mastropasqua M., and Paggi A. Lipid anomaly in a child with partial duplication 3p. Eur. Rev. Med. Pharmacol. Sci. 2 (1998) 127-129
6. Brunner H.G., and Bokhoven H. Genetic players in esophageal atresia and tracheoesophageal fistula. Curr. Opin. Genet. Dev. 15 (2005) 341-347
7. Brunner H.G., and Winter R.M. Autosomal dominant inheritance of abnormalities of the hands and feet with short palpebral fissures, variable microcephaly with learning disability, and oesophageal/duodenal atresia. J. Med. Genet. 28 (1991) 389-394
8. Buchin P.J., Levy J.S., and Schullinger J.N. Down's syndrome and the gastrointestinal tract. J. Clin. Gastroenterol. 8 (1986) 111-114
9. Chen C.Y., Tsao P.N., Chou H.C., Chen S.J., and Tsou K.I. Esophageal atresia associated with tracheal stenosis and right lung agenesis: report of one case. Acta Paediatr. Taiwan 43 (2002) 348-350
10. Chittmittrapap S., Spitz L., Kiely E.M., and Brereton R.J. Oesophageal atresia and associated anomalies. Arch. Dis. Child 64 (1989) 364-368
11. Choong Y.F., Watts P., Little E., and Beck L. Goldenhar and cri-du-chat syndromes: a contiguous gene deletion syndrome?. J. Aapos. 7 (2003) 226-227
12. Ciccone R., Giorda R., Gregato G., Guerrini R., Giglio S., Carrozzo R., Bonaglia M.C., Priolo E., Lagana C., Tenconi R., Rocchi M., Pramparo T., Zuffardi O., and Rossi E. Reciprocal translocations: a trap for cytogenetists?. Hum. Genet. 117 (2005) 571-582
13. Cooper M.K., Wassif C.A., Krakowiak P.A., Taipale J., Gong R., Kelley R.I., Porter F.D., and Beachy P.A. A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis. Nat. Genet. 33 (2003) 508-513
14. Cottrall K., Magrath I., Bootes J.A., Prouten V., Brooker C., Stewart A., and Richards B.W. A case of proximal 14 trisomy with pathological findings. J. Ment. Defic. Res. 25 (1981) 1-6
15. Czeizel A., and Ludanyi I. An aetiological study of the VACTERL-association. Eur. J. Pediatr. 144 (1985) 331-337
16. Dallapiccola B., Mingarelli R., Digilio C., Obregon M.G., and Giannotti A. Interstitial deletion del(17) (q21.3q23 or 24.2) syndrome. Clin. Genet. 43 (1993) 54-55
17. de Pina Neto J.M., and Ferrari I. Partial 3p trisomy and different rearrangements involving chromosome 3 in the proposita's family. Am. J. Med. Genet. 5 (1980) 25-33
18. Depaepe A., Dolk H., and Lechat M.F. The epidemiology of tracheo-oesophageal fistula and oesophageal atresia in Europe. EUROCAT Working Group. Arch. Dis. Child 68 (1993) 743-748
19. Di Gianantonio E., Schaefer C., Mastroiacovo P.P., Cournot M.P., Benedicenti F., Reuvers M., Occupati B., Robert E., Bellemin B., Addis A., Arnon J., and Clementi M. Adverse effects of prenatal methimazole exposure. Teratology 64 (2001) 262-266
20. Digilio M.C., Marino B., Bagolan P., Giannotti A., and Dallapiccola B. Microdeletion 22q11 and oesophageal atresia. J. Med. Genet. 36 (1999) 137-139
21. Doray B., Becmeur F., Girard-Lemaire F., Schluth C., and Flori E. Esophageal and duodenal atresia in a girl with a 12q24.3-qter deletion. Clin. Genet. 61 (2002) 468-471
22. Entezami M., Coumbos A., Runkel S., Vogel M., and Wegner R. Combined partial trisomy 3p/monosomy 5p resulting in sonographic abnormalities. Clin. Genet. 52 (1997) 96-99
23. Felix J.F., Keijzer R., van Dooren M.F., Rottier R.J., and Tibboel D. Genetics and developmental biology of oesophageal atresia and tracheo-oesophageal fistula: lessons from mice relevant for paediatric surgeons. Pediatr. Surg. Int. 20 (2004) 731-736
24. Field B., Smith A., and Sillence D. Malformation syndrome of chromosome 10q duplication and the VATER association. Ann. Génét. 26 (1983) 31-33
25. Forrester M.B., and Merz R.D. Epidemiology of oesophageal atresia and tracheo-oesophageal fistula in Hawaii, 1986-2000. Public Health 119 (2005) 483-488
26. Gibson-Brown J.J., Agulnik S.I., Silver L.M., Niswander L., and Papaioannou V.E. Involvement of T-box genes Tbx2-Tbx5 in vertebrate limb specification and development. Development 125 (1998) 2499-2509
27. Giorda R., Cerritello A., Bonaglia M.C., Bova S., Lanzi G., Repetti E., Giglio S., Baschirotto C., Pramparo T., Avolio L., Bragheri R., Maraschio P., and Zuffardi O. Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia. J. Med. Genet. 41 (2004) e71
28. Gribble S.M., Prigmore E., Burford D.C., Porter K.M., Ng B.L., Douglas E.J., Fiegler H., Carr P., Kalaitzopoulos D., Clegg S., Sandstrom R., Temple I.K., Youings S.A., Thomas N.S., Dennis N.R., Jacobs P.A., Crolla J.A., and Carter N.P. The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. J. Med. Genet. 42 (2005) 8-16
29. Hengstschlager M., Prusa A.R., Repa C., Drahonsky R., Deutinger J., Pollak A., and Bernaschek G. Patient with partial trisomy 9q and learning disability but no pyloric stenosis. Dev. Med. Child Neurol. 46 (2004) 57-59
30. Hurst J.A., Meinecke P., and Baraitser M. Balanced t(6;8)(6p8p;6q8q) and the CHARGE association. J. Med. Genet. 28 (1991) 54-55
31. Hutchinson R., Wilson M., and Voullaire L. Distal 8p deletion (8p23.1-8pter): a common deletion?. J. Med. Genet. 29 (1992) 407-411
32. Jackson J., Robson L., Meagher S., Watson G., and Smith A. How accurate does rapid fetal karyotyping need to be? Case of unbalanced t(13;18). Prenat. Diagn. 13 (1993) 767-770
33. Jongmans M.C., Admiraal R.J., van der Donk K.P., Vissers L.E., Baas A.F., Kapusta L., van Hagen J.M., Donnai D., de Ravel T.J., Veltman J.A., Geurts van Kessel A., De Vries B.B., Brunner H.G., Hoefsloot L.H., and van Ravenswaaij C.M. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J. Med. Genet. 43 (2006) 306-314
34. Kallen B., Mastroiacovo P., and Robert E. Major congenital malformations in Down syndrome. Am. J. Med. Genet. 65 (1996) 160-166
35. Kanamori Y., Kitano Y., Hashizume K., Sugiyama M., Tomonaga T., Takayasu H., Egami S., Goishi K., Shibuya K., Kawana Y., Marumo G., Kikuchi A., Kozuma S., Taketani Y., and Sekiyama Y. A case of laryngeal atresia (congenital high airway obstruction syndrome) with chromosome 5p deletion syndrome rescued by ex utero intrapartum treatment. J. Pediatr. Surg. 39 (2004) E25-E28
36. Kennedy D., Silver M.M., Winsor E.J., Toi A., Provias J., Macha M., Precht K., Ledbetter D.H., and Chitayat D. Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele. Am. J. Med. Genet. 91 (2000) 167-170
37. Khalifa M.M., MacLeod P.M., and Duncan A.M. Additional case of de novo interstitial deletion del(17)(q21.3q23) and expansion of the phenotype. Clin. Genet. 44 (1993) 258-261
38. Kohlschmidt N., Zielinski J., Brude E., Schafer D., Olert J., Hallermann C., Coerdt W., and Arnemann J. Prenatal diagnosis of a fetus with a cryptic translocation 4p;18p and Wolf-Hirschhorn syndrome (WHS). Prenat. Diagn. 20 (2000) 152-155
39. Kushnick T., Rao K.W., and Lamb A.N. Familial 5p- syndrome. Clin. Genet. 26 (1984) 472-476
40. Kyyronen P., and Hemminki K. Gastro-intestinal atresias in Finland in 1970-79, indicating time-place clustering. J. Epidemiol. Community Health 42 (1988) 257-265
41. Lam W.W., Kirk J., Manning N., Reardon W., Kelley R.I., and Fitzpatrick D. Decreased cholesterol synthesis as a possible aetiological factor in malformations of Trisomy 18. Eur. J. Med. Genet. 49 (2006) 195-199
42. Lammer E.J., Cordero J.F., and Khoury M.J. Exogenous sex hormone exposure and the risk for VACTERL association. Teratology 34 (1986) 165-169
43. Levin M.L., Shaffer L.G., Lewis R., Gresik M.V., and Lupski J.R. Unique de novo interstitial deletion of chromosome 17, del(17) (q23.2q24.3) in a female newborn with multiple congenital anomalies. Am. J. Med. Genet. 55 (1995) 30-32
44. Luo J., Sucov H.M., Bader J.A., Evans R.M., and Giguere V. Compound mutants for retinoic acid receptor (RAR) beta and RAR alpha 1 reveal developmental functions for multiple RAR beta isoforms. Mech. Dev. 55 (1996) 33-44
45. Marigo V., Roberts D.J., Lee S.M., Tsukurov O., Levi T., Gastier J.M., Epstein D.J., Gilbert D.J., Copeland N.G., Seidman C.E., Jenkins N.A., Seidman J.G., McMahon A.P., and Tabin C. Cloning, expression, and chromosomal location of SHH and IHH: two human homologues of the Drosophila segment polarity gene hedgehog. Genomics 28 (1995) 44-51
46. Marsh A.J., Wellesley D., Burge D., Ashton M., Browne C., Dennis N.R., and Temple K. Interstitial deletion of chromosome 17 (del(17)(q22q23.3)) confirms a link with oesophageal atresia. J. Med. Genet. 37 (2000) 701-704
47. Martin N.J., and Steinberg B.G. The dup(3)(p25 leads to pter) syndrome: a case with holoprosencephaly. Am. J. Med. Genet. 14 (1983) 767-772
48. Masada C.T., Olney A.H., Fordyce R., and Sanger W.G. Partial deletion of 14q and partial duplication of 14q in sibs: testicular mosaicism for t(14q;14q) as a common mechanism. Am. J. Med. Genet. 34 (1989) 528-534
49. Masumoto K., Suita S., and Taguchi T. Oesophageal atresia with a terminal deletion of chromosome 2q37.1. Clin. Dysmorphol. 15 (2006) 213-216
50. Mattei M.G., Petkovich M., Mattei J.F., Brand N., and Chambon P. Mapping of the human retinoic acid receptor to the q21 band of chromosome 17. Hum. Genet. 80 (1988) 186-188
51. McGaughran J., Aftimos S., and Oei P. Trisomy of 3pter in a patient with apparent C (trigonocephaly) syndrome. Am. J. Med. Genet. 94 (2000) 311-315
52. McNeal R.M., Skoglund R.R., and Francke U. Congenital anomalies including the VATER association in a patient with del(6)q deletion. J. Pediatr. 91 (1977) 957-960
53. Mickelson E.C., Robinson W.P., Hrynchak M.A., and Lewis M.E. Novel case of del(17)(q23.1q23.3) further highlights a recognizable phenotype involving deletions of chromosome (17)(q21q24). Am. J. Med. Genet. 71 (1997) 275-279
54. Miller B.A., Jayakar P., and Capo H. Child with multiple congenital anomalies and mosaicism 46, XX/46,XX, del (14)(q32.3). Am. J. Med. Genet. 44 (1992) 635-637
55. Ming J.E., Roessler E., and Muenke M. Human developmental disorders and the Sonic hedgehog pathway. Mol. Med. Today 4 (1998) 343-349
56. Muneer R.S., and Rennert O.M. Partial trisomy 8q. Pediatr. Res. 15 (1981) 566 (abstract)
57. Niebuhr E., Sparrevohn S., Henningsen K., and Mikkelsen M. A case of liveborn triploidy (69,XXX). Acta Paediatr. Scand. 61 (1972) 203-208
58. Nora A.H., and Nora J.J. A syndrome of multiple congenital anomalies associated with teratogenic exposure. Arch. Environ. Health 30 (1975) 17-21
59. Packham E.A., and Brook J.D. T-box genes in human disorders. Hum. Mol. Genet. 12 (2003) R37-R44
60. Park J.P., Moeschler J.B., Berg S.Z., Bauer R.M., and Wurster-Hill D.H. A unique de novo interstitial deletion del(17)(q21.3q23) in a phenotypically abnormal infant. Clin. Genet. 41 (1992) 54-56
61. Pittock S.T., Ellison J.W., Whiteman D.A., and Lteif A.N. VACTERL Association with Ring Y Chromosome and SHOX Deletion (abstract) (May 1-4, 2004), Pediatric Academic Societies' Annual Meeting, San Francisco, CA, USA
62. Que J., Choi M., Ziel J.W., Klingensmith J., and Hogan B.L. Morphogenesis of the trachea and esophagus: current players and new roles for noggin and Bmps. Differentiation 74 (2006) 422-437
63. Rethoré M.-O., Lejeune J., Carpentier S., Prieur M., Dutrillaux B., Seringe P., Rossier A., and Job J.-C. Trisomie pour la partie distale du bras court du chromosome 3 chez trois germains. Premier exemple d'insertion chromosomique: INS (7;3)(q31;p21p26). Ann. Génét. 15 (1972) 159-165
64. Robert E., Mutchinick O., Mastroiacovo P., Knudsen L.B., Daltveit A.K., Castilla E.E., Lancaster P., Kallen B., and Cocchi G. An international collaborative study of the epidemiology of esophageal atresia or stenosis. Reprod. Toxicol. 7 (1993) 405-421
65. Rose N.C., Menacker S.J., Schnur R.E., Jackson L., McDonald-McGinn D.M., Stump T., Emanuel B.S., and Zackai E.H. Ocular albinism in a male with del (6)(q13-q15): candidate region for autosomal recessive ocular albinism?. Am. J. Med. Genet. 42 (1992) 700-705
66. Sakiyama J., Yamagishi A., and Kuroiwa A. Tbx4-Fgf10 system controls lung bud formation during chicken embryonic development. Development 130 (2003) 1225-1234
67. Schinzel A. Catalogue of Unbalanced Chromosome Aberrations in Man (2001), De Gruyter, New York
68. Schinzel A. Cyclopia and cebocephaly in two newborn infants with unbalanced segregation of a familial translocation rcp (1;7)(q32;q34). Am. J. Med. Genet. 18 (1984) 153-161
69. Schinzel A. A further case of cyclopia due to unbalanced segregation of a previously reported rcp(1;7)(q32;q34) familial translocation. Am. J. Med. Genet. 24 (1986) 205-206
70. Schroeder Jr. H.W., Forbes S., Mack L., Davis S., and Norwood T.H. Recombination aneusomy of chromosome 5 associated with multiple severe congenital malformations. Clin. Genet. 30 (1986) 285-292
71. Schwanitz G., and Zerres K. [Phenotype signs at different ages in partial trisomy 3p by familial translocation 3/5]. Signes phenotypiques a differents ages d'une trisomie partielle 3p par translocation familiale 3/5. Ann. Genet. 27 (1984) 167-172
72. Seaver L.H., Grimes J., and Erickson R.P. Female pseudohermaphroditism with multiple caudal anomalies: absence of Y-specific DNA sequences as pathogenetic factors. Am. J. Med. Genet. 51 (1994) 16-21
73. Shaw-Smith C. Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology. J. Med. Genet. 43 (2006) 545-554
74. Shroff M., Israel J., and Rosenthal F. Congenital anomalies associated with partial deletion of the long arms of chromosome 4 (46, XY, del(4)(q31)). Am. J. Hum. Genet. 33 (1981) 122A (abstract)
75. Smeets E., Vandenbossche L., and Fryns J.P. Partial distal trisomy 3p. A partial autosomal trisomy without major dysmorphic features. Genet. Couns. 12 (2001) 85-89
76. Speleman F., Van Roy N., Wiegant J., Verschraegen-Spae M.R., Benoit Y., Govaert P., Goossens L., and Leroy J.G. Detection of subtle reciprocal translocations by fluorescence in situ hybridization. Clin. Genet. 41 (1992) 169-174
77. Tengstrom C., Wilska M., Kahkonen M., Autio S., and Leisti J. Partial trisomy 12q: clinical and cytogenetic observations. Clin. Genet. 28 (1985) 112-117
78. Torfs C.P., Curry C.J., and Bateson T.F. Population-based study of tracheoesophageal fistula and esophageal atresia. Teratology 52 (1995) 220-232
79. Torfs C.P., Milkovich L., and van den Berg B.J. The relationship between hormonal pregnancy tests and congenital anomalies: a prospective study. Am. J. Epidemiol. 113 (1981) 563-574
80. Valenzuela D.M., Economides A.N., Rojas E., Lamb T.M., Nunez L., Jones P., Lp N.Y., Espinosa III R., Brannan C.I., Gilbert D.J., et al. Identification of mammalian noggin and its expression in the adult nervous system. J. Neurosci. 15 (1995) 6077-6084
81. Van Der Burgt C.J., Merkx G.F., Janssen A.H., Mulder J.C., Suijkerbuijk R.F., and Smeets D.F. Partial trisomy for 5q and monosomy for 12p in a liveborn child as a result of a complex five breakpoint chromosome rearrangement in a parent. J. Med. Genet. 29 (1992) 739-741
82. Vissers L.E., van Ravenswaaij C.M., Admiraal R., Hurst J.A., de Vries B.B., Janssen I.M., van der Vliet W.A., Huys E.H., de Jong P.J., Hamel B.C., Schoenmakers E.F., Brunner H.G., Veltman J.A., and van Kessel A.G. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat. Genet. 36 (2004) 955-957
83. Walsh L.E., Vance G.H., and Weaver D.D. Distal 13q Deletion Syndrome and the VACTERL association: case report, literature review, and possible implications. Am. J. Med. Genet. 98 (2001) 137-144
84. Woods C.G., Koehn D.C., McFadden D.E., Evans J.A., and Van Allen M.I. A case report of a child with an interstitial deletion of chromosome 2 (q22;q24.2) and the VATER association phenotype. Proc. Greenwood Genet. Center 12 (1993) 119-120
85. Yi C.H., Russ A., and Brook J.D. Virtual cloning and physical mapping of a human T-box gene, TBX4. Genomics 67 (2000) 92-95
86. Yunis J.J. Trisomy for the distal end of the short arm of chromosome 3: a syndrome. Am. J. Dis. Child 132 (1978) 30-33