ARE T(X-Y) (P22-Q11) TRANSLOCATIONS IN FEMALES FREQUENTLY ASSOCIATED WITH MADELUNG DEFORMITY

Authors
GUICHET A BRIAULT S LEMERRER M MORAINE C
Citation
A. Guichet et al., ARE T(X-Y) (P22-Q11) TRANSLOCATIONS IN FEMALES FREQUENTLY ASSOCIATED WITH MADELUNG DEFORMITY, Clinical dysmorphology, 6(4), 1997, pp. 341-345
Citations number
14
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical dysmorphology → ACNP
ISSN journal
09628827
Volume
6
Issue
4
Year of publication
1997
Pages
341 - 345
Database
ISI
SICI code
0962-8827(1997)6:4<341:AT(TIF>2.0.ZU;2-Z
Abstract
We report a female with a de novo 46,X,der(X)t(X;Y) (p22;q12) transloc ation who presented with short stature, mild clinical features of Turn er syndrome and a Madelung deformity. It appears that some particular radiological and/or clinical skeletal features are common in females c arrying X-Y translocations. Based on the corresponding papers and on c linical findings of our patient we discuss the significance of Madelun g deformity encountered in X-Y translocations, dyschondrosteosis and T urner syndrome.