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[先天性缺指(趾)畸形、先天性心脏缺陷和唇腭裂遗传综合征]

[Hereditary syndrome of ectrodactyly, congenital heart defect and cleft lip and palate].

作者信息

Patiutko R S, Kozlova S I

出版信息

Genetika. 1983 Jul;19(7):1198-204.

PMID:6684610
Abstract

A case of a family of he proband suffering from ektrodaktyly, together with heart defect, cleft lip and palate is reported. The parents came to the genetic counselling center to get the genetic prognosis for a next child. All together 3 cases demonstrating different types of radial defects were registered in this pedigree. The authors discuss possible causes of clinical polymorphism and accent the complications of giving genetic prognosis in such cases.

摘要

报告了一例先证者家族患有缺指(趾)畸形,并伴有心脏缺陷、唇腭裂的病例。父母前往遗传咨询中心,为下一胎获取遗传预后评估。该谱系中总共登记了3例表现出不同类型桡骨缺陷的病例。作者讨论了临床多态性的可能原因,并强调了在此类病例中进行遗传预后评估的复杂性。

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