Taiwanese Journal of Obstetrics and Gynecology
Volume 46, Issue 4 , Pages 336-351, December 2007

Chromosomal Abnormalities Associated with Neural Tube Defects (II): Partial Aneuploidy

  • Chih-Ping Chen

      Affiliations

    • Corresponding Author InformationCorrespondence to: Dr Chih-Ping Chen, Department of Obstetrics and Gynecology, Mackay Memorial Hospital, 92, Section 2, Chung-Shan North Road, Taipei 104, Taiwan

Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Department of Medical Research, Mackay Memorial Hospital, Taipei, Department of Biotechnology, Asia University, College of Chinese Medicine, China Medical University, Taichung, and Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan

Accepted 11 October 2007.

Article Outline

SUMMARY 

Fetuses with neural tube defects (NTDs) carry a risk of chromosomal abnormalities. The risk varies with maternal age, gestational age at diagnosis, association with other structural abnormalities, and family history of chromosome aberrations. This article provides a comprehensive review of structural chromosomal abnormalities associated with NTDs, such as del(13q), r(13), dup(2p), del(2q), del(1p), del(1q), dup(1q), del(3p), dup(3p), del(3q), dup(3q), del(4p), dup(4p), del(4q), dup(4q), del(5p), del(6p), dup(6q), del(6q), dup(7p), del(7q), dup(8q), del(9p), del(10q), del(11q), dup(11q), dup(12p), dup(14q), del(14q), del(15q), dup(16q), del(18q), r(18), dup(20p), +i(20p), del(22q), del(Xp), and dup(Xq). NTDs may be associated with aneuploidy. Perinatal identification of NTDs should alert one to the possibility of chromosomal abnormalities and prompt a thorough cytogenetic investigation and genetic counseling.

Key Words:  chromosomal abnormalities , neural tube defects , partial aneuploidy

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References 

  1. McGahan JP , Pilu G , Nyberg DA . Neural tube defects and the spine . In:  Nyberg DA ,  McGahan JP ,  Pretorius DH ,  Pilu G editor. Diagnostic Imaging of Fetal Anomalies . Philadelphia: Lippincott Williams & Wilkins; 2003;p. 291–334
  2. Allderdice PW , Davis JG , Miller OJ , et al.   The 13q− deletion syndrome . Am J Hum Genet . 1969;21:499–512
  3. Schmid W , Mühlethaler JP , Briner J , Knechtli H . Ring chromosome 13 in a polymalformed anencephalic . Humangenetik . 1975;27:63–66
  4. Fear C , Briggs A . Familial partial trisomy of the long arm of chromosome 3 (3q) . Arch Dis Child . 1979;54:135–138
  5. Telfer MA , Clark CE , Casey PA , Cowell HR , Stroud HH . Long arm deletion of chromosome 13 with exclusion of esterase D from 13q32-13qter . Clin Genet . 1990;17:428–432
  6. Jones IM , Palmer CG , Weaver DD , Hodes ME . Study of two cases of ring 13 chromosome using high-resolution banding . Am J Hum Genet . 1981;33:252–261
  7. Benn PA , Warburton D , Byrne JM , et al.   A fetus with a chromosome 13 ring and placenta with chromosome 13 rod/ring mosaicism . Prenat Diagn . 1983;3:297–302
  8. Rudelli R , Byrne J , Warburton D , et al.   Anencephaly in the 13q− syndrome . Teratology . 1983;27:74A
  9. Palmer CG , Miles JH , Howard-Peebles PN , Magenis RE , Patil S , Friedman JM . Fetal karyotype following ascertainment of fetal anomalies by ultrasound . Prenat Diagn . 1987;7:551–555
  10. Towfighi J , Ladda RL , Sharkey FE . Purkinje cell inclusions and “atelencephaly” in 13q− chromosomal syndrome . Arch Pathol Lab Med . 1987;111:146–150
  11. Drugan A, Johnson MP, Dvorin E, Moody J, Krivchenia EL, Schwartz D, et al. Aneuploidy with neural tube defects: another reason for complete evaluation in patients with suspected ultrasound anomalies or elevated maternal serum alpha-fetoprotein . Fetal Ther . 1989;4:88–92
  12. Brandt CA , Hertz JM , Petersen MB , Vogel F , Noer H , Mikkelsen M . Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q . J Med Genet . 1992;29:704–708
  13. Brown S , Gersen S , Anyane-Yeboa K , Warburton D . 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 . 1993;45:52–59
  14. Brown S , Russo J , Chitayat D , Warburton D . The 13q− syndrome: the molecular definition of a critical deletion region in band 13q32 . Am J Med Genet . 1995;57:859–866
  15. Goldsmith CL , Tawagi GF , Carpenter BF , Speevak MD , Hunter AGW . Mosaic r(13) in an infant with aprosen-cephaly . Am J Med Genet . 1993;47:531–533
  16. Chen CP , Liu FF , Jan SW , Wang KG , Lan CC . Prenatal diagnosis of partial monosomy 13q associated with occipital encephalocele in a fetus . Prenat Diagn . 1996;16:664–666
  17. Chen CP , Chern SR , Lee CC , Chen WL , Wang W . Prenatal diagnosis of mosaic ring chromosome 13 with anencephaly . Prenat Diagn . 2001;21:102–105
  18. Kennedy D , Chitayat D , Winsor EJT , Silver MM , Toi A . Prenatally diagnosed neural tube defects: ultrasound, chromosome, and autopsy or postnatal findings in 212 cases . Am J Med Genet . 1998;77:317–321
  19. Lam YH , Tang MHY , Ng LKL . 13q− in a fetus with ultrasono-graphic diagnosis of exencephaly in the first trimester . Prenat Diagn . 1998;18:634–635
  20. Luo J , Balkin N , Stewart JF , Sarwark JF , Charrow J , Nye JS . Neural tube defects and the 13q deletion syndrome: evidence for a critical region in 13q33–34 . Am J Med Genet . 2000;91:227–230
  21. Brown SA , Warburton D , Brown LY , et al.   Holoprosen-cephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired . Nat Genet . 1998;20:180–183
  22. Zhu H , Junker WM , Finnell RH , et al.   Lack of association between ZIC2 and ZIC3 genes and the risk of neural tube defects (NTDs) in Hispanic populations . Am J Med Genet A . 2003;116:414–415
  23. Klootwijk R , Groenen P , Schijvenaars M , et al.   Genetic variants in ZIC1, ZIC2, and ZIC3 are not major risk factors for neural tube defects in humans . Am J Med Genet A . 2004;124:40–47
  24. Inoue T , Hatayama M , Tohmonda T , Itohara S , Aruga J , Mikoshiba K . Mouse Zic5 deficiency results in neural tube defects and hypoplasia of cephalic neural crest derivatives . Dev Biol . 2004;270:146–162
  25. Chawengsaksophak K , de Graaff W , Rossant J , Deschamps J , Beck F . Cd×2 is essential for axial elongation in mouse development . Proc Natl Acad Sci USA . 2004;101:7641–7645
  26. Therkelsen AJ , Hulten M , Jonasson J , Lindsten J , Christensen NC , Iversen T . Presumptive direct insertion within chromosome 2 in man . Ann Hum Genet . 1973;36:367–373
  27. Carriere C . Etude Clinique et Cytogénétique d'une Enfant Trisomique pour le Segment p23.3-pter du Chromosome 2 . Lyon: Thése; 1975;
  28. Francke U , Jones KL . The 2p partial trisomy syndrome. Duplication of region 2p23 → 2pter in two members of a t(2;7) translocation kindred . Am J Dis Child . 1976;130:1244–1249
  29. Cassidy SB , Heller RM , Chazen EM , Engel E . The chromosome 2 distal short arm trisomy syndrome . J Pediatr . 1977;91:934–938
  30. Fineman RM , Buyse M , Morgan M . Variable phenotype associated with duplication of different regions of 2p . Am J Med Genet . 1983;15:451–456
  31. Walbaum R , Peyrat MF , van de Velde MF , Guevin du Masgenet B , Bethouart M , Farriaux JP . Faut-il caryotyper les parents d'enfants atteints d'anomalies de fermeture du tube neural . J Genet Hum . 1984;32:307
  32. Singer N , Gersen S , Warburton D . The value of chromosome analysis in cases of neural tube defects: a case of anencephaly associated with fetal dup(2)(p24-pter) . Prenat Diagn . 1987;7:567–571
  33. Sarda P , Lefort G , Devaux P , Humeau C , Rieu D . Multiple congenital anomalies due to partial 2p13-2pter duplication resulting from an unbalanced X;2 translocation . Ann Genet . 1992;35:117–120
  34. Winsor SH , McGrath MJ , Khalifa M , Duncan AM . A report of recurrent anencephaly with trisomy 2p23-2pter: additional evidence for the involvement of 2p24 in neural tube development and evaluation of the role for cytogenetic analysis . Prenat Diagn . 1997;17:665–669
  35. Hahm GK , Barth RF , Schauer GM , Reiss R , Opitz JM . Trisomy 2p syndrome: a fetus with anencephaly and postaxial polydactyly . Am J Med Genet . 1999;87:45–48
  36. Wellesley D , Boyle T . Regarding trisomy 2p syndrome . Am J Med Genet . 2000;92:295
  37. Doray B , Favre R , Gasser B , Girard-Lemaire F , Schluth C , Flori E . Recurrent neural tube defects associated with partial trisomy 2p22-pter: report of two siblings and review of the literature . Genet Couns . 2003;14:165–172
  38. Thangavelu M , Frolich G , Rogers D . Partial duplication 2p as the sole abnormality in two cases with anencephaly . Am J Med Genet A . 2004;124:170–172
  39. Lurie IW , Ilyina HG , Gurevich DB , et al.   Trisomy 2p: Analysis of unusual phenotypic findings . Am J Med Genet . 1995;55:229–236
  40. Lee KJ , Mendelsohn M , Jessell TM . Neuronal patterning by BMPs: a requirement for GDF7 in the generation of a discrete class of commissural interneurons in the mouse spinal cord . Genes Dev . 1998;12:3394–3407
  41. Ishikawa K , Nagase T , Nakajima D , et al.   Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro . DNA Res . 1997;4:307–313
  42. McConnell TS , Kornfeld M , McClellan G , Aase J . Partial deletion of chromosome 2 mimicking a phenotype of trisomy 18: case report with autopsy . Hum Pathol . 1980;11:202–205
  43. Melnyk AR , Muraskas J . Interstitial deletion of chromosome 2 region in a malformed infant . Am J Med Genet . 1993;45:49–51
  44. Chinen Y , Tohma T , Izumikawa Y , Iha T , Goya Y , Naritomi K . Small interstitial deletion of the long arm of chromosome 2 (2q24.3): further delineation of 2q medial monosomy syndrome . Jpn J Hum Genet . 1996;41:323–328
  45. Nye JS , Balkin N , Lucas H , Knepper PA , McLone DG , Charrow J . Myelomeningocele and Waardenburg syndrome (type 3) in patients with interstitial deletions of 2q35 and the PAX3 gene: possible digenic inheritance of a neural tube defect . Am J Med Genet . 1998;75:401–408
  46. Pantke O , Cohen M . The Waardenburg syndrome . Birth Defects Orig Artic Ser . 1971;7:147–152
  47. de Saxe M , Kromberg JG , Jenkins T . Waardenburg syndrome in South Africa. Part I. An evaluation of the clinical findings in 11 families . S Afr Med J . 1984;66:256–261
  48. da-Silva EO . Waardenburg I syndrome: a clinical and genetic study of two large Brazilian kindreds, and literature review . Am J Med Genet . 1991;40:65–74
  49. Begleiter ML , Harris DJ . Waardenburg syndrome and meningocele . Am J Med Genet . 1992;44:541
  50. Carezani-Gavin M , Clarren SK , Steege T . Waardenburg syndrome associated with meningomyelocele . Am J Med Genet . 1992;42:135–136
  51. Chatkupt S , Chatkupt S , Johnson WG . Waardenburg syndrome and myelomeningocele in a family . J Med Genet . 1993;30:83–84
  52. Hoth CF , Milunsky A , Lipsky N , Sheffer R , Clarren SK , Baldwin CT . Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I) . Am J Hum Genet . 1993;52:455–462
  53. Moline ML , Sandlin C . Waardenburg syndrome and meningomyelocele . Am J Med Genet . 1993;47:126
  54. Aymé S , Philip N . Possible homozygous Waardenburg syndrome in a fetus with exencephaly . Am J Med Genet . 1995;59:263–265
  55. Hol FA, Hamel BC, Geurds MP, Mullaart RA, Barr FG, Macina RA, et al. A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome . J Med Genet . 1995;32:52–56
  56. Kujat A , Veith VP , Faber R , Froster UG . Prenatal diagnosis and genetic counseling in a case of spina bifida in a family with Waardenburg syndrome type I . Fetal Diagn Ther . 2007;22:155–158
  57. Shim SH , Wyandt HE , McDonald-McGinn DM , Zackai EZ , Milunsky A . Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects . Clin Genet . 2004;66:46–52
  58. Stamm DS , Rampersaud E , Slifer SH , et al.   High-density single nucleotide polymorphism screen in a large multiplex neural tube defect family refines linkage to loci at 7p21.1-pter and 2q33.1-q35 . Birth Defects Res A Clin Mol Teratol . 2006;76:499–505
  59. Dagna Bricarelli F , Lamba Carbone LD , Caffarena G , Cresta E , Frateschi M , Rasore-Quartino A . lq32qter trisomy due to maternal translocation t(1;6)(q32;q26) . Pathologica . 1979;71:342; [In Italian]
  60. Golabi M , Ito M , Hadley D . Double neural tube defects in two siblings: new features of chromosome 1 deletion syndrome—1q43 . Am J Hum Genet . 1982;34:125A
  61. Al-Awadi SA , Farag TI , Usha R , El-Khalifa MY , Sundareshan TS , Al-Othman SA . Interstitial deletion of the long arm of chromosome 1 [del(1)(q32q42)] . Am J Med Genet . 1986;23:931–933
  62. Ribeiro MC , Brunoni D . Terminal deletion 1q43 in a newborn with hydrocephalus . Ann Genet . 1987;30:126–128
  63. Takano T , Yamanouchi Y , Mori Y , et al.   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 antithrom-bin III . Am J Med Genet . 1997;68:207–210
  64. Pettenati MJ , Berry M , Shashi V , Bowen JH , Harper M . Prenatal diagnosis of complete sole trisomy 1q . Prenat Diagn . 2001;21:435–440
  65. Thauvin-Robinet C , Callier P , Laurent N , et al.   Syndromic encephalocele in a fetal case with a 1p35-pter deletion and a 14q32-qter duplication inherited from a maternal balanced translocation . Prenat Diagn . 2007;27:555–559
  66. Wen S , Ethen M , Langlois PH , Mitchell LE . Prevalence of encephalocele in Texas, 1999-2002 . Am J Med Genet A . 2007;143:2150–2155
  67. Allderdice PW , Browne N , Murphy DP . Chromosome 3 duplication q21 → qter deletion p25 → pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21) . Am J Hum Genet . 1975;27:699–718
  68. Suzumori K , Koishi T , Manzai M , Yagami Y . A fetus with partial trisomy 3 (p21-pter) detected by prenatal diagnosis . Jpn J Hum Genet . 1983;28:45–53
  69. Bader PI , Haney SM , Munsick RA , Schubert SR , Hodes ME . Brief clinical report: neural tube defects in dup(11q) . Am J Med Genet . 1984;19:5–8
  70. Jokiaho I , Salo A , Niemi KM , Blomstedt GC , Pihkala J . Deletion 3q27 → 3qter in an infant with mild dysmorphism, parietal meningocele, and neonatal miliaria rubra-like lesions . Hum Genet . 1989;83:302–304
  71. Kennedy D , Silver MM , Winsor EJT , et al.   Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele . Am J Med Genet . 2000;91:167–170
  72. Schinzel A . In: Catalogue of Unbalanced Chromosome Aberrations in Man . 2 edition. Berlin: Walter de Gruter; 2001;p. 145; 223.
  73. Kosaki R , Fukuhara Y , Kosuga M , et al.   OEIS complex with del(3)(q12.2q13.2) . Am J Med Genet A . 2005;135:224–226
  74. Zeng L , Zhang C , Xu J , et al.   A novel splice variant of the cell adhesion molecule contactin 4 (CNTN4) is mainly expressed in human brain . J Hum Genet . 2002;47:497–499
  75. Wei MH , Karavanova I , Ivanov SV , et al.   In silico-initiated cloning and molecular characterization of a novel human member of the L1 gene family of neural cell adhesion molecules . Hum Genet . 1998;103:355–364
  76. Carbonell JG , Angel J , Carlan S , Papenhausen PR , Essig YP , Kousseff BG . Deletion 4 (p15 → pter) mimicking in utero Meckel-Gruber syndrome . Proc Greenwood Genet Center . 1991;10:138
  77. Tachdjian G , Fondacci C , Tapia S , Huten Y , Blot P , Nessmann C . The Wolf-Hirschhorn syndrome in fetuses . Clin Genet . 1992;42:281–287
  78. Mikelsaar RV , Lurie IW , Ilus TE . “Pure” partial trisomy 4q25-qter owing to a de novo 4;22 translocation . J Med Genet . 1996;33:344–345
  79. Quadrelli R , Strehle EM , Vaglio A , et al.   A girl with del(4)(q33) and occipital encephalocele: clinical description and molecular genetic characterization of a rare patient . Genet Test . 2007;11:4–10
  80. Nowaczyk MJ , Teshima IE , Siegel-Bartelt J , Clarke JT . Deletion 4q21/4q22 syndrome: two patients with de novo 4q21.3q23 and 4q13.2q23 deletions . Am J Med Genet . 1997;69:400–405
  81. Itoh A , Miyabayashi T , Ohno M , Sakano S . Cloning and expressions of three mammalian homologues of Drosophila slit suggest possible roles for Slit in the formation and maintenance of the nervous system . Brain Res Mol Brain Res . 1998;62:175–186
  82. Mita R , Moriyama T , Sekiya T , Takebe Y . A case of “cri-du-chat” syndrome with meningomyelocele . No Shinkei Geka . 1980;8:761–765 [In Japanese]
  83. Shibata T , Shimoyama Y , Gotoh M , Hirohashi S . Identification of human cadherin-14, a novel neurally specific type II cadherin, by protein interaction cloning . J Biol Chem . 1997;272:5236–5240
  84. Bosse A, Zülch A, Becker MB, Torres M, Gómez-Skarmeta JL, Modolell J, et al. Identification of the vertebrate Iroquois homeobox gene family with overlapping expression during early development of the nervous system . Mech Dev . 1997;69:169–181
  85. Wright YM , Clark WE , Breg WR . Craniorachischisis in a partially trisomic 11 fetus in a family with reproductive failure and a reciprocal translocation, t(6p plus;11q minus) . J Med Genet . 1974;11:69–75
  86. Stamberg J , Shapiro J , Valle D , Kuhajda FP , Thomas G , Wissow L . Partial trisomy 6q, due to balanced maternal translocation (6;22) (q21; p13) or (q21; pter) . Clin Genet . 1981;19:122–125
  87. Lukusa T , Willekens D , Lukusa N , De Cock F , Fryns JP . Terminal 6q25.3 deletion and abnormal behaviour . Genet Couns . 2001;12:213–221
  88. Zhang J , Hagopian-Donaldson S , Serbedzija G , et al.   Neural tube, skeletal and body wall defects in mice lacking transcription factor AP-2 . Nature . 1996;381:238–241
  89. Bergé-Lefranc JL , Jay P , Massacrier A , et al.   Characterization of the human jumonjigene . Hum Mol Genet . 1996;5:1637–1641
  90. Carnevale A , Frias S , del Castillo V . Partial trisomy of the short arm of chromosome 7 due to a familial translocation rcp(7;14)(p11;p11) . Clin Genet . 1978;14:202–206
  91. Stevenson RE , Phelan MC , Stanislovitis P , Klinger K , Schwartz CE . Interstitial deletion of 7q22 in a fetus with anencephaly . Proc Greenwood Genet Center . 1989;8:56–59
  92. Bogart MH , Cunniff C , Bradshaw C , Jones KL , Jones OW . Terminal deletions of the long arm of chromosome 7: five new cases . Am J Med Genet . 1990;36:53–55
  93. Rodríguez L , Cuadrado Pérez I , Herrera Montes J , Lorente Jareño ML , López Grondona F , Martínez-Frías ML . Terminal deletion of the chromosome 7(q36-qter) in an infant with sacral agenesis and anterior myelomeningocele . Am J Med Genet . 2002;110:73–77
  94. Lynch SA , Wang Y , Strachan T , Burn J , Lindsay S . Autosomal dominant sacral agenesis: Currarino syndrome . J Med Genet . 2000;37:561–566
  95. Belloni E , Muenke M , Roessler E , et al.   Identification of Sonic hedgehog as a candidate gene responsible for holo-prosencephaly . Nat Genet . 1996;14:353–356
  96. Roessler E , Belloni E , Gaudenz K , et al.   Mutations in the human Sonic Hedgehog gene cause holoprosencephaly . Nat Genet . 1996;14:357–360
  97. Schinzel A . Partial trisomy 8q in half-sisters with distinct dysmorphic patterns not similar to the trisomy 8 mosaicism syndrome . Hum Genet . 1977;37:17–26
  98. Williams TM , McConnell TS , Martinez F , Smith ACM , Sujansky E . Clinicopathologic and dysmorphic findings in recombinant chromosome 8 syndrome . Hum Pathol . 1984;15:1080–1084
  99. Rott HD , Schwanitz G , Grosse KP , Alexandrow G . C 11/D 13-translocation in four generations . Humangenetik . 1972;14:300–305
  100. Park JP , McDermet MK , Doody AM , Marin-Padilla JM , Moeschler JB , Wurster-Hill DH . Familial t(11;13)(q21;q14) and the duplication 11q, 13q phenotype . Am J Med Genet . 1993;45:46–48
  101. Ragoussis J , Senger G , Trowsdale J , Campbell IG . Genomic organization of the human folate receptor genes on chromosome 11q13 . Genomics . 1992;14:423–430
  102. De Marco P , Moroni A , Merello E , et al.   Folate pathway gene alterations in patients with neural tube defects . Am J Med Genet . 2000;95:216–223
  103. Roume J , Genin E , Cormier-Daire V , et al.   A gene for Meckel syndrome maps to chromosome 11q13 . Am J Hum Genet . 1998;63:1095–1101
  104. Jones FS , Kioussi C , Copertino DW , Kallunki P , Holst BD , Edelman GM . Barx2, a new homeobox gene of the Bar class, is expressed in neural and craniofacial structures during development . Proc Natl Acad Sci USA . 1997;94:2632–2637
  105. Claussen U , Ulmer R , Beinder E , Voigt HJ . Six years' experience with rapid karyotyping in prenatal diagnosis: correlations between phenotype detected by ultrasound and fetal karyotype . Prenat Diagn . 1994;14:113–121
  106. Gustavsson P , Schoumans J , Staaf J , Borg Å , Nordenskjöld M , Annerén G . Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida . Eur J Med Genet . 2007;50:237–241
  107. Dowton SB , Hing AV , Sheen-Kaniecki V , Watson MS . Chromosome 18q22.2 → qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defects . J Med Genet . 1997;34:414–417
  108. Cohen MM , Storm DF , Capraro VJ . A ring chromosome (No. 18) in a cyclops . Clin Genet . 1972;3:249–252
  109. Bird LM , Pretorius DH , Mendoza AE , Jones MC . Anencephaly with holoprosencephalic facies due to ring chromosome 18 . Clin Dysmorphol . 1997;6:351–358
  110. Overhauser J , Mitchell HF , Zackai EH , Tick DB , Rojas K , Muenke M . Physical mapping of the holoprosencephaly critical region in 18p11.3 . Am J Hum Genet . 1995;57:1080–1085
  111. Gripp KW , Edwards MC , Mowat D , et al.   Mutations in the transcription factor TGIF in holoprosencephaly . Am J Hum Genet . 1998;63:A32; [Abstract]
  112. Zumel RM , Darnaude MT , Delicado A , Diaz de Bustamante A , de Torres ML , Lopez Pajares I . Trisomy 20p from maternal translocation and anencephaly. Case report and genetic review . Ann Genet . 1989;32:247–249
  113. Wu YC , Fang JS , Lee KF , Estipona J , Yang ML , Yuan CC . Prenatal diagnosis of occipital encephalocele, mega-cisterna magna, mesomelic shortening, and clubfeet associated with pure tetrasomy 20p . Prenat Diagn . 2003;23:124–127
  114. Helwig U, Imai K, Schmahl W, Thomas BE, Varnum DS, Nadeau JH, et al. Interaction between undulated and Patch leads to an extreme form of spina bifida in double-mutant mice . Nat Genet . 1995;11:60–63
  115. Hol FA , Geurds MP , Chatkupt S , et al.   PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida . J Med Genet . 1996;33:655–660
  116. Nickel RE, Pillers DA, Merkens M, Magenis RE, Driscoll DA, Emanuel BS, et al. Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region . Am J Med Genet . 1994;52:445–449
  117. Forrester S , Kovach MJ , Smith RE , Rimer L , Wesson M , Kimonis VE . Kousseff syndrome caused by deletion of chromosome 22q11-13 . Am J Med Genet . 2002;112:338–342
  118. Seller MJ , Mohammed S , Russell J , Ogilvie C . Micro-deletion 22q11.2, Kousseff syndrome and spina bifida . Clin Dysmorphol . 2002;11:113–115
  119. Maclean K, Field MJ, Colley AS, Mowat DR, Sparrow DB, Dunwoodie SL, et al. Kousseff syndrome: a causally heterogeneous disorder . Am J Med Genet A . 2004;124:307–312
  120. Kousseff BG . Sacral meningocele with conotruncal heart defects: a possible autosomal recessive trait . Pediatrics . 1984;74:395–398
  121. Toriello HV , Sharda JK , Beaumont EJ . Autosomal recessive syndrome of sacral and conotruncal developmental field defects (Kousseff syndrome) . Am J Med Genet . 1985;22:357–360
  122. Perrimon N , Mahowald AP . Multiple functions of segment polarity genes in Drosophila . Dev Biol . 1987;119:587–600
  123. Funke B , Puech A , Saint-Jore B , Pandita R , Skoultchi A , Morrow B . Isolation and characterization of a human gene containing a nuclear localization signal from the critical region for velo-cardio-facial syndrome on 22q11 . Genomics . 1998;53:146–154
  124. Plaja A , Vendrell T , Sarret E , Toran N , Mediano C . Terminal deletion of Xp in a dysmorphic anencephalic fetus . Prenat Diagn . 1994;14:410–412
  125. Hol FA , Schepens MT , van Beersum SE , et al.   Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes . Genomics . 2000;69:174–181
  126. Fryns JP , Devriendt K , Moerman P . Lumbosacral spina bifida and myeloschizis in a female foetus with de novo X/autosomal translocation (t(X;22)(q27;q121)) . Genet Couns . 1996;7:159–160
  127. Baraitser M , Burn J . Brief clinical report: neural tube defects as an X-linked condition . Am J Med Genet . 1984;17:383–385
  128. Jensson O , Arnason A , Gunnarsdottir H , Petursdottir I , Fossdal R , Hreidarsson S . A family showing apparent X linked inheritance of both anencephaly and spina bifida . J Med Genet . 1988;25:227–229
  129. Hol FA , Geurds MP , Jensson O , et al.   Exclusion mapping of the gene for X-linked neural tube defects in an Icelandic family . Hum Genet . 1994;93:452–456
  130. Newton R , Stanier P , Loughna S , et al.   Linkage analysis of 62 X-chromosomal loci excludes the X chromosome in an Icelandic family showing apparent X-linked recessive inheritance of neural tube defects . Clin Genet . 1994;45:241–249
  131. Laumonnier F , Bonnet-Brilhault F , Gomot M , et al.   X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroli-gin family . Am J Hum Genet . 2004;74:552–557
  132. Boyles AL , Hammock P , Speer MC . Candidate gene analysis in human neural tube defects . Am J Med Genet C Semin Med Genet . 2005;135:9–23
  133. Kibar Z , Capra V , Gros P . Toward understanding the genetic basis of neural tube defects . Clin Genet . 2007;71:295–310

PII: S1028-4559(08)60003-0

doi:10.1016/S1028-4559(08)60003-0

Taiwanese Journal of Obstetrics and Gynecology
Volume 46, Issue 4 , Pages 336-351, December 2007

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