A patient with 13q-syndrome with mild mental retardation and with growth retardation.

Citation
C. Stoll et Y. Alembik, A patient with 13q-syndrome with mild mental retardation and with growth retardation., ANN GENET, 41(4), 1998, pp. 209-212
Citations number
11
Categorie Soggetti
Molecular Biology & Genetics
Journal title
ANNALES DE GENETIQUE
ISSN journal
00033995 → ACNP
Volume
41
Issue
4
Year of publication
1998
Pages
209 - 212
Database
ISI
SICI code
0003-3995(1998)41:4<209:APW1WM>2.0.ZU;2-W
Abstract
We report on a patient with deletion 13q33.3-->qter having growth retardati on but no severe mental retardation. He was microcephalic and had hypotonia , large, low set ears, depressed nasal bridge, hypertelorism, small chin, h igh and broad forehead and bilateral simian creases. FISH was carried out u sing a telomeric probe of chromosome 13, Only one chromosome 13 showed a si gnal. Whole chromosome 13 probe showed that there was no 13q material on an other chromosome. The karyotypes of the parents were normal.