hrp0084p3-973 | GH & IGF | ESPE2015
Wolaniecka-Deahan Kinga
, Szalecki Mieczyslaw
, Chrzanowska Krystyna
Background: Growth deficiency is a common symptom of many genetic syndromes. 13q deletion is a very rare genetic syndrome described in almost 200 cases. Growth reduction is a constant symptom along with mental retardation, congenital defects varying according to the deleted region of chromosome 13.Objective and hypotheses: The aim of this paper was to present the case of a 12 year old patient with an interstitial deletion 13q (22.331.1), important ...