A trisomy 2 fetus with severe neural tube defects and other abnormalities

Clinical Dysmorphology

Volumn 13, Issue 1, 2004, Pages 25-27

  Seller, Mary J ^a   Mazzaschi, Roberto ^b   Ogilvie, Caroline Mackie ^b   Mohammed, Shehla ^b  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b GUY S HOSPITAL   (United Kingdom)

Author keywords

Neural tube defects; Spina bifida; Spontaneous abortion; Trisomy 2

Indexed keywords

DNA;

ARTICLE; BLOOD CLOTTING FACTOR 5 DEFICIENCY; CASE REPORT; ENCEPHALOCELE; FAMILY HISTORY; FETUS; HUMAN; HUMAN TISSUE; HYPOPLASTIC LEFT HEART SYNDROME; KARYOTYPE; KYPHOSIS; MICROCEPHALY; NEURAL TUBE DEFECT; PRIORITY JOURNAL; SCOLIOSIS; THORACIC SPINE; TRISOMY; TRISOMY 2; AUDITORY CANAL; CHROMOSOME 2; CHROMOSOME ABERRATION; CONGENITAL MALFORMATION; FEMALE; FETUS DISEASE; GENETICS; KARYOTYPING; MULTIPLE MALFORMATION SYNDROME; NEURAL CREST; PATHOLOGY; PREGNANCY; SPONTANEOUS ABORTION;

ABNORMALITIES, MULTIPLE; ABORTION, SPONTANEOUS; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 2; EAR CANAL; FEMALE; FETAL DISEASES; HUMANS; KARYOTYPING; MICROCEPHALY; NEURAL CREST; NEURAL TUBE DEFECTS; PREGNANCY; SPINAL DYSRAPHISM; TRISOMY;

EID: 2442693153     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200401000-00006     Document Type: Article

References (17)

1. Boue JG, Boue A (1976). Chromosomal anomalies in early spontaneous abortion. Curr Top Pathol 62:193-208.
2. Byrne J, Warburton D (1986). Neural tube defects in spontaneous abortions. Am J Med Genet 25:327-333.
3. Creasy MR, Alberman ED (1976). Congenital malformations of the central nervous system in spontaneous abortions. J Med Genet 13:9-16.
4. Fineman RM, Buyse M, Morgan M (1983). Variable phenotype associated with duplication of different regions of 2p. Am J Med Genet 15:451-456.
5. Hassold TJ, Jacobs PA (1984). Trisomy in Man. Ann Rev Genet 18:392-395.
6. Hsu LY, Kaffe S, Jenkins EC, Alonso L, Benn PA, David K, et al. (1992). Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies. Prenat Diagn 12:555-573.
7. Longo A, Maccani U (1965). Un caso di mielomeningocele con alterazioni cromosomiche. Aggiornamento Pediatrico 16:75-78.
8. Lurie IW, Ilyina HG, Gurevich DB, Rumyantseva NV, Naumchik IV, Castellan C, et al. (1995). Trisomy 2p: analysis of unusual phenotypic findings. Am J Med Genet 55:229-236.
9. McFadden DE, Kalousek DK (1989). Survey of neural tube defects in spontaneously aborted embryos. Am J Med Genet 32:356-358.
10. Pappas JG, Havens G, Bogosian J, Bhatt J, Paka K, Babu A et al. (1995). Trisomy 2 mosaicism. Am J Hum Genet 57:A286.
11. Philipp T, Kalousek DK (2002). Neural tube defects in missed abortions. Am J Med Genet 107:52-57.
12. Robinson J, Stewart H, Moore L, Gaunt L (1997). A case of mosaic trisomy 2 diagnosed at amniocentesis in an abnormal fetus and confirmed in multiple fetal tissues. Clin Genet 51:417-420.
13. Sago H, Chen E, Conte WJ, Cox VA, Goldberg JD, Lebo RV et al. (1997). True trisomy 2 mosaicism in amniocytes and newborn liver associated with multiple system abnormalities. Am J Med Genet 72:343-346.
14. Seller MJ (1995). Neural tube defects, chromosome abnormalities and multiple closure sites for the human neural tube. Clin Dysmorphol 4:202-207.
15. Seller MJ, Bergbaum A, Daker MG (1998). Trisomy 9 in an embryo with spina bifida. Clin Dysmorphol 7:217-219.
16. Winsor SHM, McGrath MJ, Khalifa M, Duncan AMV (1997). 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 17:665-669.
17. Wolstenholme J, Rooney DE, Davison EV (1994). Confined placental mosaicism, IUGR, and adverse pregnancy outcome: a controlled retrospective UK collaborative study. Prenat Diagn. 14:345-361.