hrp0086p1-p830 | Syndromes: Mechanisms and Management P1 | ESPE2016
Maggio Maria Cristina
, Malacarne Michela
, Vergara Beatrice
, Corsello Giovanni
Background: Chromosomal imbalances are often due to sub microscopic deletions or duplications not evidenced by conventional cytogenetic methods.Objective and hypotheses: CGH array can help in the diagnosis of severe short stature, associated with mental retardation and dysmorphisms.Method: We describe the clinical case of a 13.1-year-old girl, born at 35 weeks, from a triplets pregnancy. She was 127.5 cm (<−5 SDS), 33 kg ...