ea0029p1310 | Paediatric endocrinology | ICEECE2012
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...