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[并指多指畸形:一个意大利家族五代人中的不寻常特征及可变表达]

[Synpolydactyly: unusual features and variable expression in 5 generations of an Italian family].

作者信息

Chessa Ricotti G, Lapi E, De Bernardi A, Corti P

机构信息

Divisione di pediatria medica, Nuovo Ospedale S. Giovanni di Dio, USL 10/C, Firenze, Italia.

出版信息

Pediatr Med Chir. 1990 May-Jun;12(3):259-63.

PMID:2177188
Abstract

The Authors report a family with synpolydactyly (or syndactyly type II) present in eleven out of thirty four members in five generations. Affected members do not show any other anomalies so that chromosomal or other genetic syndromes may be excluded. The possible mode of inheritance, the variability in expression, the penetrance in five generations are discussed. The peculiar bone deformities of hands and feet already reported by Cross et Al. are confirmed. The Authors presume that the present report is the first observation of synpolydactyly in an Italian family.

摘要

作者报告了一个患有并指多指畸形(或II型并指)的家族,在五代人的34名成员中有11人患病。患病成员未表现出任何其他异常,因此可以排除染色体或其他遗传综合征。文中讨论了可能的遗传方式、表达的变异性以及五代中的外显率。Cross等人之前报道过的手和脚独特的骨骼畸形得到了证实。作者推测本报告是意大利家族中并指多指畸形的首次观察报道。

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