[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 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.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics; D000293:Adolescent; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D011859:Radiography; D012729:Sex Chromosome Aberrations / Q000000981:diagnostic imaging* / Q000235:genetics; D013577:Syndrome
Su una osservazione di sindrome XXXXY: rilievi clinico-radiologici.