PRENATAL DETECTION OF DE-NOVO INVERSION OF CHROMOSOME-2 (P13Q11.2) AND POSTNATAL FOLLOW-UP

Authors
KOZMA C SUBASINGHE C MECK J
Citation
C. Kozma et al., PRENATAL DETECTION OF DE-NOVO INVERSION OF CHROMOSOME-2 (P13Q11.2) AND POSTNATAL FOLLOW-UP, Prenatal diagnosis, 16(4), 1996, pp. 366-370
Citations number
8
Categorie Soggetti
Obsetric & Gynecology
Journal title
Prenatal diagnosis → ACNP
ISSN journal
01973851
Volume
16
Issue
4
Year of publication
1996
Pages
366 - 370
Database
ISI
SICI code
0197-3851(1996)16:4<366:PDODIO>2.0.ZU;2-K
Abstract
We report the first case of an apparent de novo pericentric inversion of chromosome 2 at the breakpoints p13q11.2 that was detected prenatal ly. Follow-up performed over 4 years showed phenotypic abnormalities i ncluding minor craniofacial dysmorphism, hypotonia, hearing loss, gust atory flushing syndrome, and severe developmental delays. The literatu re on chromosome 2 inversion is reviewed.