hrp0086p2-p396 | Gonads & DSD P2 | ESPE2016
Bianconi Martina
, Scalini Perla
, Maccora Ilaria
, de Martino Maurizio
, Megna Paolo
, Stagi Stefano
Background: Patients with chromosome 2 pericentromeric duplication are rarely reported in literature.Objective and hypotheses: To describe a young girl with a congenital malformations syndrome, hypogonadotropic hypogonadism and impaired bone quality associated with a chromosome 2 pericentromeric duplication.Results: The proposita was born at 37th weeks of gestation from a twin pregnancy with a cesarean delivery presenting low birth...