XXXXY syndrome: clinical-radiological findings in one patient (author's transl)

A case of XXXXY syndrome in a 15 year old male is reported. Clinical findings (mental retardation, muscular hypotonia, hypogonadism, characteristic facies), chromosome analyses as well as fingerprint ridge counts were typical of the syndrome. Several radiological abnormalities were found. It is note...

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Bibliographic Details
Published in:	Radiologia medica Vol. 67; no. 3; p. 147
Main Authors:	Ventruto, V, Pisciotta, R, Celona, A, Cavaliere, M L, Pagano, L, Stabile, M, Fioretti, G, Togo, F
Format:	Journal Article
Language:	Italian
Published:	Italy 01-03-1981
Subjects:	Abnormalities, Multiple - diagnostic imaging Abnormalities, Multiple - genetics Adolescent Humans Karyotyping Male Pedigree Radiography Sex Chromosome Aberrations - diagnostic imaging Sex Chromosome Aberrations - genetics Syndrome
Online Access:	Get more information
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Summary:	A case of XXXXY syndrome in a 15 year old male is reported. Clinical findings (mental retardation, muscular hypotonia, hypogonadism, characteristic facies), chromosome analyses as well as fingerprint ridge counts were typical of the syndrome. Several radiological abnormalities were found. It is noteworthy that features consistent with epiphysial dysplasia were present. In the patient's kindred a case of "cri du chat" syndrome and a 5:9 balanced translocation were discovered.
ISSN:	0033-8362