足裂畸形、小眼畸形、唇腭裂以及与6号染色体和13号染色体易位相关的智力发育迟缓。
Split-foot anomaly, microphthalmia, cleft-lip and cleft-palate, and mental retardation associated with a chromosome 6;13 translocation.
作者信息
Viljoen D L, Smart R
机构信息
Department of Human Genetics, University of Cape Town Medical School, Observatory, South Africa.
出版信息
Clin Dysmorphol. 1993 Jul;2(3):274-7.
The split-hand/split-foot anomaly is a component of several disorders which may occur sporadically or be transmitted as autosomal dominant or autosomal recessive traits. We describe a severely mentally handicapped patient with ectrodactyly of both feet in association with extreme microphthalmia, central cleft-lip and palate and mental retardation. She has an apparent de novo 46,XX,t(6;13) (q21;q12) unbalanced translocation. Either of these breakpoints may be the locus for the ectrodactyly-ectodermal dysplasia-facial cleft (EEC) syndrome.
裂手/裂足畸形是几种疾病的组成部分，这些疾病可能散发出现，或以常染色体显性或常染色体隐性特征遗传。我们描述了一名严重智力障碍患者，其双足出现缺指（趾）畸形，并伴有极度小眼症、中央唇腭裂和智力发育迟缓。她有一个明显的新发46,XX,t(6;13)(q21;q12)不平衡易位。这些断点中的任何一个都可能是缺指（趾）-外胚层发育不良-面部裂隙（EEC）综合征的基因座。
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