[罕见的不完全性双侧唇腭裂合并畸形综合征1例]。

Stomatologiia. Stomatology Pub Date : 1989-05-01
V Krumova, N Geseva
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引用次数: 0

摘要

一个罕见的情况下,描述了不完全性双侧唇腭裂与畸形综合征的结合。细胞遗传学研究显示先证者的染色体没有偏差。家谱研究(涵盖所有在世的亲属——30人)揭示了所研究的亲属中裂缝的异质表现,没有任何畸形变化。在上述案例中,所获得的数据倾向于一种可能的常染色体显性遗传。
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[A rare case of incomplete bilateral cleft of lip and palate in combination with malformative syndrome].

A rare case is described being a combination between incomplete bilateral cleft of lip and palate with malformative syndrome. The cytogenetic study revealed no deviation in the chromosomes of the proband. The genealogical study (covering all alive relatives--30) reveals a heterogenic manifestation of the clefts in the relatives studied, without any malformative changes in them. The data obtained, in the case described, tend to a possible autosomal-dominant heredity.

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