Sirota L, Zlotogora Y, Shabtai F, Halbrecht I, Elian E
Clin Genet. 1981 Feb;19(2):87-93. doi: 10.1111/j.1399-0004.1981.tb00676.x.
A 14-month-old boy with a 49,XYYYY karyotype is reported. The physical examination revealed unusual facial features, brachydactyly with clinodactyly, limitation of supination at the left elbow, and inguinal hernia. Radiological abnormalities of the skeleton and urinary tract were present, and the developmental examination showed a DQ of 70.
报告了一名14个月大、核型为49,XYYYY的男孩。体格检查发现面部特征异常、短指并指、左肘旋后受限和腹股沟疝。骨骼和泌尿系统存在放射学异常，发育检查显示发育商为70。
