hrp0089p3-p251 | Growth & Syndromes P3 | ESPE2018

Mosaicism 47XXX/45X0, a Case Report

Pinto Renata Machado , Duarte Sabrina Sara Moreira , Cunha Damiana Miriam da Cruz e , Ribeiro Cristiano Luiz , Silva Claudio Carlos da , Cruz Aparecido Divino da , Cruz Alex Silva da

Background and Aims: Turner Syndrome (TS), 45X0, is the most common chromosomal pathology affecting females, occurring in 1:2500 to 1:5000 female infants. The typical phenotype includes short stature, gonadal dysgenesis leading to sexual infantilism, low-set ears, low rear hairlin, mamary hypertelorism, neck webbing, gothic palate, irregular rotation of the elbows, shield chest, shortening of the 4th metacarpal, low hairline, shortening of lower extremities, renal disorders a...