Telfer M A, Clark C E, Casey P A, Cowell H R, Stroud H H
Clin Genet. 1980 Jun;17(6):428-32.
A de novo partial 13q monosomy is reported in a severely affected 8-year-old female with the karyotype 46,XX,del(13)(q32). Abnormal features included mental retardation, delayed development, microcephaly, encephalocele, hearing loss, hypertelorism, ptosis, flat nasal bridge, protruding upper incisors, facial asymmetry, short neck, hypoplastic thumbs, scoliosis and clubfeet. The deletion was demonstrable by R-banding but was not apparent by GTG banding. The locus for esterase D (EC 3.1.1.1) is excluded from the deleted segment 13q32 leads to 13qter.
报道了一名8岁重度受累女性，核型为46,XX,del(13)(q32)，存在新发的13号染色体长臂部分单体。异常特征包括智力发育迟缓、发育延迟、小头畸形、脑膨出、听力丧失、眼距过宽、上睑下垂、鼻梁扁平、上门牙突出、面部不对称、短颈、拇指发育不全、脊柱侧弯和畸形足。该缺失通过R显带可显示，但在GTG显带中不明显。酯酶D（EC 3.1.1.1）基因座被排除在从13q32至13q末端的缺失片段之外。
