MULTIPLE CONGENITAL-MALFORMATIONS IN AN INFANT PRENATALLY DIAGNOSED WITH MOSAICISM FOR DUP(1Q) AND DEL(XQ)

Authors
WELLS SR KULLER JA RAO KW AYLSWORTH AS
Citation
Sr. Wells et al., MULTIPLE CONGENITAL-MALFORMATIONS IN AN INFANT PRENATALLY DIAGNOSED WITH MOSAICISM FOR DUP(1Q) AND DEL(XQ), Clinical genetics, 49(4), 1996, pp. 216-219
Citations number
10
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical genetics → ACNP
ISSN journal
00099163
Volume
49
Issue
4
Year of publication
1996
Pages
216 - 219
Database
ISI
SICI code
0009-9163(1996)49:4<216:MCIAIP>2.0.ZU;2-W
Abstract
After ultrasound diagnosis of a fetus with severe hydrocephalus and Da ndy-Walker malformation, amniocentesis revealed chromosomal mosaicism for dup(lq) and del(Xq). The neonate had dysmorphic facial features, v ertebral abnormalities, and pulmonary hypoplasia, and expired shortly after birth. This report confirms the poor prognosis reported for part ial trisomies involving the long arm of chromosome number 1.