[Sex chromosome abnormality: report of three clinical cases of X pentasomy]

E Biroli, C Ghimenti, I Ricci, B Pirola, M E Liverani, A Perona, L Galligani, A Guala, G Angeli
Pathologica 2003, 95 (6): 444-6
Pentasomy X cases are very few. In this study we describe three clinical cases (two newborn children and a girl in puberal age) of females showing a 49, XXXXX cariotype. The salient phenotypic characteristics of these cases (heart defects, growth deficiency, craniofacial and hand abnormalities) are compared to the clinico-pathological data described in literature.

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