Higurashi M, Iijima K, Ikeda Y, Egi S, Ohzeki T
Birth Defects Orig Artic Ser. 1982;18(4):155-67.
Turner syndrome (45,X karyotype) is one of the few sex chromosome aberrations that can be recognized clinically during infancy or childhood. The features are short stature, broad shield chest, lymphedema of feet and legs, and webbed neck. On the other hand, boys with 47,XYY karyotype cannot be diagnosed from the clinical manifestations. Although the clinical features in Turner syndrome have been the subject of many reports, there have been few anthropometric studies on patients with Turner syndrome during childhood, and there have been no such studies on 47,XYY boys. This study was designed to determine the anthropometric characteristics of 11 patients with Turner syndrome diagnosed at the University Hospital, University of Tokyo, and 7 patients with 47,XYY found in a newborn survey in one maternity hospital in Tokyo.
特纳综合征（核型为45,X）是少数在婴儿期或儿童期就能在临床上识别的性染色体畸变之一。其特征包括身材矮小、宽阔的盾形胸、下肢淋巴水肿和蹼颈。另一方面，核型为47,XYY的男孩无法根据临床表现进行诊断。虽然特纳综合征的临床特征已有许多报道，但关于特纳综合征患儿的人体测量学研究较少，且尚无针对47,XYY男孩的此类研究。本研究旨在确定东京大学医学部附属医院诊断的11例特纳综合征患者以及东京某妇产医院新生儿调查中发现的7例47,XYY患者的人体测量学特征。
