A rare case of a liveborn with free, de novo and partial trisomy 12 and an unusual phenotype.

Annales de genetique Pub Date : 1997-01-01
H el-Shanti, M Khasawneh, D Hulsberg, H Major, S Patil
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引用次数: 0

Abstract

Individuals with free and total trisomy 12 are rare and always mosaic. Incidences of partial trisomy 12 are more frequent and are classified into trisomy 12p and trisomy 12q. The phenotype of both trisomy 12p and trisomy 12q is well described in the literature. We report here, the rare occurrence of a liveborn with free and de novo trisomy 12, albeit not the whole chromosome. The clinical description of this infant includes characteristics of trisomy 12p and trisomy 12q syndromes. Few additional anomalies present in the infant are unaccounted for by both syndromes. We anticipate that these characteristics are caused by trisomy 12q13, which to our knowledge has not been reported in a trisomy before.

一个罕见的病例活产自由,新生和部分12三体和一个不寻常的表型。
自由和完全12型三体的个体很少见,而且总是嵌合体。部分12三体发病率较高,分为12p三体和12q三体。12p三体和12q三体的表型在文献中都有很好的描述。我们在这里报告了一个罕见的活产游离和新生12三体,尽管不是整个染色体。该婴儿的临床描述包括12p三体和12q三体综合征的特征。在婴儿中出现的一些额外的异常是两种综合征无法解释的。我们预计这些特征是由12q13三体引起的,据我们所知,这在三体中还没有报道过。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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