一名患有单侧缺指（趾）畸形的轻度精神发育迟缓婴儿存在12号染色体短臂13.1至13.3区间的间质缺失。
Interstitial deletion 12p13.1-13.3 in a mildly retarded infant with unilateral ectrodactyly.
作者信息
Trautmann U, Pfeiffer R A
机构信息
Institut für Humangenetik der Friedrich-Alexander Universität, Erlangen-Nurnberg, Germany.
出版信息
Ann Genet. 1994;37(3):147-9.
PMID:7847797
Abstract
The authors report a case of a deletion at 12p13.1-13.3. Only one similar observation was published [16]. The infant is mildly retarded and shows unilateral ectrodactyly.
摘要
作者报告了一例12p13.1 - 13.3缺失的病例。仅发表过一项类似观察结果[16]。该婴儿轻度智力发育迟缓，并有单侧缺指（趾）畸形。
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