ISOCHROMOSOME-18Q IN A GIRL WITH HOLOPROSENCEPHALY, DIGEORGE ANOMALY,AND STREAK OVARIES

Authors
VANESSEN AJ SCHOOTS CJF VANLINGEN RA MOURITS MJE TUERLINGS JHAM LEEGTE B
Citation
Aj. Vanessen et al., ISOCHROMOSOME-18Q IN A GIRL WITH HOLOPROSENCEPHALY, DIGEORGE ANOMALY,AND STREAK OVARIES, American journal of medical genetics, 47(1), 1993, pp. 85-88
Citations number
28
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
47
Issue
1
Year of publication
1993
Pages
85 - 88
Database
ISI
SICI code
0148-7299(1993)47:1<85:IIAGWH>2.0.ZU;2-E
Abstract
We report on the clinical and pathologic findings in a girl with isoch romosome 18q (46, XX,i(18q)) who had combined manifestations of monoso my 18p and trisomy 18q. Major congenital anomalies included premaxilla ry agenesis, alobar holoprosenphaly, double outlet right ventricle, Di George anomaly and streak ovaries. The clinical spectrum in i(18q) is very broad. (C) 1993 Wiley-Liss, Inc.