PRENATAL-DIAGNOSIS IN 2 CASES OF DE-NOVO COMPLEX BALANCED CHROMOSOMALREARRANGEMENTS - 3-YEAR FOLLOW-UP IN ONE CASE

Citation
B. Sikkemaraddatz et al., PRENATAL-DIAGNOSIS IN 2 CASES OF DE-NOVO COMPLEX BALANCED CHROMOSOMALREARRANGEMENTS - 3-YEAR FOLLOW-UP IN ONE CASE, Prenatal diagnosis, 15(5), 1995, pp. 467-473
Citations number
15
Categorie Soggetti
Obsetric & Gynecology
Journal title
ISSN journal
01973851
Volume
15
Issue
5
Year of publication
1995
Pages
467 - 473
Database
ISI
SICI code
0197-3851(1995)15:5<467:PI2COD>2.0.ZU;2-L
Abstract
We report two cases of apparently balanced complex de novo chromosomal rearrangements (BCCR) detected prenatally at 17 weeks and 10 weeks of gestation, respectively. Chromosomes were studied using GTG-banding a nd fluorescent in situ hybridization (FISH). In one case four chromoso mes and in the other case three chromosomes were involved in the rearr angements. One of the pregnancies was terminated and no external or in ternal abnormalities were detected at autopsy. The other pregnancy con tinued to term. Level III ultrasound examination showed no abnormaliti es. The child is now 3 years old and has neither congenital anomalies nor evidence of delayed psychomotor development.