De novo 46,XX,t(6;7)(q27;q11;23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome

Citation
P. Von Dadelszen et al., De novo 46,XX,t(6;7)(q27;q11;23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome, AM J MED G, 90(4), 2000, pp. 270-275
Citations number
20
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
0148-7299 → ACNP
Volume
90
Issue
4
Year of publication
2000
Pages
270 - 275
Database
ISI
SICI code
0148-7299(20000214)90:4<270:DN4AWS>2.0.ZU;2-1
Abstract
Supravalvular aortic stenosis may present as an isolated finding or as part of Williams syndrome. Williams syndrome is a contiguous gene syndrome asso ciated with neurodevelopmental and multisystemic manifestations caused by h emizygous deletion at 7q11.23. We report on the prenatal and histopathologi cal findings in a patient with a chromosome translocation involving the Wil liams syndrome critical region, The initial abnormality on fetal ultrasound was hydrops fetalis detected at 30 weeks and echocardiography showed narro wing of the aorta and the pulmonary arteries. The baby died shortly after d elivery and an autopsy revealed diffuse tubular thickening with luminal nar rowing of the aorta, aortic branches, and the pulmonary arteries. Histopath ology showed dysplasia of the media with reduced elastic content and "cart- wheel" arrangement of collagen, elastic, and muscle fascicles, The karyotyp e was 46,XX,t(6;7) (q27;q11.23). Three signals were detected using the Onco r fluorescent in situ hybridization probe for elastin-Williams syndrome (WS CR) suggesting that the break in chromosome 7 is within the elastin-William s gene. This patient is of special interest because of the prenatal present ation and the chromosomal translocation involving the elastin-Williams synd rome locus. (C) 2000 Wiley-Liss, Inc.