Prenatal diagnosis of a fetus with two balanced de novo chromosome rearrangements

American Journal of Medical Genetics

Volumn 66, Issue 2, 1996, Pages 197-199

  Cotter, Philip D ^a   Caggana, Michele ^a   Willner, Judith P ^a   Babu, Arvind ^a,b   Desnick, Robert J ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b BETH ISRAEL MEDICAL CENTER   (United States)

Author keywords

amniocentesis; complex chromosome rearrangement; intrauterine growth retardation; inversion; prenatal diagnosis; translocation

Indexed keywords

ADULT; AMNIOCENTESIS; ARTICLE; CASE REPORT; CHROMOSOME BREAKAGE; CHROMOSOME REARRANGEMENT; FEMALE; HUMAN; INTRAUTERINE GROWTH RETARDATION; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

ABORTION, INDUCED; ADULT; AMNIOCENTESIS; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 16; CHROMOSOMES, HUMAN, PAIR 2; FEMALE; FETAL DISEASES; FETAL GROWTH RETARDATION; HUMANS; PREGNANCY; TRANSLOCATION, GENETIC;

EID: 0030456061     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19961211)66:2<197::AID-AJMG14>3.0.CO;2-O     Document Type: Article

References (12)

1. Batista DAS, Tuck-Miller CM, Martinez JE, Kearns WG, Pearson PL, Stetten G (1993): A complex chromosomal rearrangement detected prenatally and studied by fluorescence in situ hybridization. Hum Genet 92:117-121.
2. Bogart MH, Bradshaw CL, Jones OW, Schanberger JE (1986): Prenatal diagnosis and follow up of a child with a complex chromosome rearrangement. J Med Genet 23:180-183.
3. Gardner RJM, Sutherland GR (1989): "Chromosome Abnormalities and Genetic Counseling." New York: Oxford University Press,
4. Genome Data Base GDB™ (1995): "The Human Genome Data Base Project." Baltimore, MD: Johns Hopkins University, World Wide Web 〈URL:http://gdbwww.gdb.org/gdbdoc/topq.html〉.
5. Hook EB, Cross PK (1987): Rates of mutant and inherited structural cytogenetic abnormalities detected at amniocentesis: Results on about 63,000 fetuses. Ann Hum Genet 51:27-55.
6. Kim HJ, Perle MA, Bogosian V, Greco A (1986): Prenatal diagnosis of a de novo complex chromosomal rearrangement involving four chromosomes. Prenat Diag 211-216.
7. Köhler J, Brackertz M, Feige A, Grimm T (1986): Prenatal diagnosis of a complex, balanced rearrangement of chromosomes 7 and 14 in a healthy child with a history of preconceptual X-ray exposure. Prenat Diag 6:389-390.
8. Pai GS, Thomas GH, Mahoney W, Migeon BR (1980): Complex chromosome rearrangements. Report of a new case and literature review. Clin Genet 18:436-144.
9. Pruggmayer M, Zoll B, Leipoldt M, Thies U (1990): Prenatal diagnosis and postnatal follow-up of a child with two de novo unrelated balanced reciprocal translocations. Prenat Diag 10:337-342.
10. Sikkema-Raddatz B, Sijmons RH, Tan-Sindhunata MB, Van Der Veen AY, Brunsting R, De Vries B, Beekhuis JR, Bekedam DJ, Van Aken B, De Jong B (1995): Prenatal diagnosis in two cases of de novo complex balanced chromosomal rearrangements: Three-year follow-up in one case. Prenat Diag 15:467-73.
11. Stoll C, Flori E, Macler J, Renaud R (1979): Prenatal diagnosis and postnatal follow-up of an abnormal child with two de novo apparently balanced translocations. Hum Genet 47:221-224.
12. Warburton D (1991): De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: Clinical significance and distribution of breakpoints. Am J Hum Genet 49:995-1013.