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 inRadiologia 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
LanguageItalian
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
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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
1826-6983