Reference : Femoral-facial syndrome: long term follow-up and associated array CGH abnormalities.
Scientific congresses and symposiums : Poster
Life sciences : Genetics & genetic processes
http://hdl.handle.net/2268/158348
Femoral-facial syndrome: long term follow-up and associated array CGH abnormalities.
English
[en] Le syndrome fémoro facial: suivi au long terme et anomalies CGH
JACQUINET, Adeline mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique >]
VALDES SOCIN, Hernan Gonzalo mailto [Centre Hospitalier Universitaire de Liège - CHU > > Endocrinologie clinique >]
LIBIOULLE, Cécile mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique >]
CABERG, Jean-Hubert mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique >]
VERLOES, Alain mailto [Hopital APHP-Robert Debré , Paris > Génétique > > >]
22-Oct-2013
Yes
International
American Society of Human Genetics 63rd Annual Meeting
22-26
American Society of Human
Boston
USA
[en] femoro facial syndrome ; Rokitansky-Kuster-Hauser syndrome ; Mullerian agenesis ; SMC2 gene ; CHFR, ZNF26, ZNF140, ZNF10 and ZNF268 genes
[en] The femoral-facial syndrome is usually sporadic and its aetiology remains unknown. Non-genetic factors as maternal diabetes mellitus have been associated. Reports of familial cases have otherwise suggested autosomal dominant inheritance. We report the 20 years clinical follow-up of a girl with femoral-facial syndrome diagnosed at birth. Recently, array CGH investigation identified a 1400 kb duplication at 9q31.1, including the gene SMC2, and a 343 kb deletion at 12q24.33 including the genes CHFR, ZNF26, ZNF140, ZNF10 and ZNF268. Moreover, the patient presents a Mayer-Rokitansky-Kuster-Hauser syndrome diagnosed at puberty. Femoral-facial syndrome and Mullerian agenesis may reflect different defects in the primary axial mesodermal development, being the consequences of same environmental or/and genetic factors during blastogenesis. Among these genetic factors, we suggest the possible involvement of the two copy number variants reported here
http://hdl.handle.net/2268/158348

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