PRENATAL-DIAGNOSIS OF DELETION 11Q23-]QTER - REPORT OF 2 UNRELATED CASES

Authors
CAIOLA A ALTISSIMI D BRINCHI V MAGGI E MINGARELLI R
Citation
A. Caiola et al., PRENATAL-DIAGNOSIS OF DELETION 11Q23-]QTER - REPORT OF 2 UNRELATED CASES, Annales de genetique, 36(4), 1993, pp. 228-230
Citations number
3
Categorie Soggetti
Genetics & Heredity
Journal title
Annales de genetique → ACNP
ISSN journal
00033995
Volume
36
Issue
4
Year of publication
1993
Pages
228 - 230
Database
ISI
SICI code
0003-3995(1993)36:4<228:POD1-R>2.0.ZU;2-S
Abstract
Two cases of de novo deletion of the region distal to 11q23 were detec ted at cordocentesis, following sonographic evidence of malformations. Consistent findings in both fetuses were an abnormal amount of amniot ic fluid, growth retardation, heart and renal defects. At delivery, th e characteristic facial dysmorphisms of del(11q23) syndrome were also detected, including trigonocephaly, hypertelorism, abnormal slant of p alpebral fissures, micrognathia and abnormal ears.