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A male patient with 48,XXYY syndrome: importance of distinction from Klinefelter's syndrome
Author(s) -
Grammatico Paola,
Bottoni Ugo,
Sanctis Stefania,
Sulli Nicoletta,
Tonanzi Tiziano,
Onorio Antonio Carlesimo,
Porto Giuseppe
Publication year - 1990
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1990.tb03550.x
Subject(s) - klinefelter syndrome , dysarthria , intellectual disability , differential diagnosis , medicine , hypoplasia , pediatrics , pathology , psychiatry
The authors report a patient affected with mental retardation, dysarthria, bilateral testicular hypoplasia and extensive ulcers of the lower limbs. Clinical study and laboratory tests revealed 48,XXYY syndrome. The authors confirm the importance of differential diagnosis from Klinefelter syndrome, illustrating the parameters and the pathology of both syndromes. They discuss the hypotheses concerning the pathogenesis of the ulcerations, and stress the importance of clinical and genetic characterization, leading to a differentiated prognosis of social capacity and prospect of working.