Ventruto V, Pisciotta R, Celona A, Cavaliere M L, Pagano L, Stabile M, Fioretti G, Togo F
Radiol Med. 1981 Mar;67(3):147-51.
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.
报告了一名15岁男性的XXXXY综合征病例。临床发现（智力迟钝、肌张力减退、性腺功能减退、特征性面容）、染色体分析以及指纹嵴计数均符合该综合征的典型表现。发现了一些放射学异常。值得注意的是，存在与骨骺发育异常相符的特征。在患者家族中发现了一例“猫叫综合征”病例和一个5:9平衡易位。
