DELETION (2)(Q37)

Citation
Rf. Stratton et al., DELETION (2)(Q37), American journal of medical genetics, 51(2), 1994, pp. 153-155
Citations number
8
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
51
Issue
2
Year of publication
1994
Pages
153 - 155
Database
ISI
SICI code
0148-7299(1994)51:2<153:D(>2.0.ZU;2-R
Abstract
We report on a 5-month-old girl with widely spaced nipples, redundant nuchal skin, coarctation of the aorta, anal atresia with distal fistul a, postnatal growth retardation, hypotonia, and sparse scalp hair. Ini tial clinical assessment suggested the diagnosis of Ullrich-Turner syn drome. Chromosome analysis showed a 46,XX,del(2)(q37) karyotype in per ipheral lymphocytes. We compare her findings to those of other reporte d patients with terminal deletions of 29. (C) 1994 Wiley-Liss, Inc.