Searchable abstracts of presentations at key conferences in endocrinology

ea0029p1310 | Paediatric endocrinology | ICEECE2012

A particular phenotype in a case of Down-Turner syndrome

Bergamaschi S. , Giavoli C. , Profka E. , Ferrante E. , Fortuna R. , Guerneri S. , Milani D. , Menni F. , Cerutti M. , Manzoni G. , Berrettini A. , Vallasciani S. , Spada A. , Beck-Peccoz P.

Introduction: Double aneuploidy involving both sex and autosomal chromosomes (chr) is very rare, Down–Turner syndrome being the most frequent. Fourty-seven cases of Down–Turner mosaicism have been reported, only nine with a karyotype containing Y chr (phenotype: seven male, two ambiguous genitals).Case report: We describe a girl affected with Down-Turner syndrome. The cytogenetic analysis on peripheral lymphocytes, performed 2 months after birt...