源自母体t(3;20)易位的20号染色体短臂三体。
Trisomy 20p from maternal t(3;20) translocation.
作者信息
Archidiacono N, Tecilazich D, Tonini G, Rocchi M, Filippi G
出版信息
J Med Genet. 1979 Jun;16(3):229-32. doi: 10.1136/jmg.16.3.229.
Abstract
A case of trisomy 20p resulting from a maternal translocation t(3;20) is described. QM and BUdR banding techniques were used for its identification. A round face with oblique palpebral fissures, strabismus, cardiac and vertebral abnormalities, mild psychomotor retardation, together with poor coordination and speech impediment, are the most typical features of the proband.
摘要
本文描述了一例因母亲发生t(3;20)易位导致的20号染色体短臂三体病例。采用了喹吖因和5-溴脱氧尿苷显带技术对其进行鉴定。该先证者最典型的特征为圆脸、睑裂倾斜、斜视、心脏和脊柱异常、轻度精神运动发育迟缓，以及协调性差和言语障碍。
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