咨询中的困境：欧洲经济共同体综合征

Dilemmas in counselling: the EEC syndrome.

作者信息

Tse K, Temple I K, Baraitser M

机构信息

Clinical Genetic Counselling Service, Queen Elizabeth Hospital, Kowloon, Hong Kong.

出版信息

J Med Genet. 1990 Dec;27(12):752-5. doi: 10.1136/jmg.27.12.752.

DOI:10.1136/jmg.27.12.752

PMID:2074560

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1017279/

Abstract

A family with the EEC syndrome is reported. Two sibs have the classical form of the condition with ectrodactyly, ectodermal dysplasia, and clefting. Their mother, however, has only minimal evidence, with preaxial polydactyly of the right hand and duplication of the terminal phalanx of the second toe of the left foot with 3/4 syndactyly. The dilemmas faced by the genetic counsellor are discussed in this variable autosomal dominant condition.

摘要

本文报道了一个患有EEC综合征的家族。两名同胞患有典型的病症，表现为缺指（趾）畸形、外胚层发育不良和腭裂。然而，他们的母亲仅有轻微症状，右手有轴前多指畸形，左脚第二趾末节指骨重复并伴有3/4并指（趾）畸形。本文讨论了在这种可变的常染色体显性遗传病中，遗传咨询师所面临的困境。