De novo duplication Xq22-q23 in a girl with short stature and gonadal dysgenesis

Authors
Correa-Cerro, L Garcia-Cruz, D Ruiz, MX Sanchez-Corona, J
Citation
L. Correa-cerro et al., De novo duplication Xq22-q23 in a girl with short stature and gonadal dysgenesis, ANN GENET, 42(1), 1999, pp. 41-44
Citations number
20
Categorie Soggetti
Molecular Biology & Genetics
Journal title
ANNALES DE GENETIQUE
ISSN journal
00033995 → ACNP
Volume
42
Issue
1
Year of publication
1999
Pages
41 - 44
Database
ISI
SICI code
0003-3995(1999)42:1<41:DNDXIA>2.0.ZU;2-N
Abstract
A female of 20 years of age with short stature, gonadal dysgenesis and Turn er stigmata with a de novo dup Xq22-q23 was studied. The maternal cytogenet ic study was normal, This case represents the smallest Xq duplication in an abnormal female. We discuss the possibility of a maternal imprinting.