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相邻2减数分裂分离。1例由家族性13号染色体长臂;15号染色体长臂平衡易位导致的病例报告及文献复习

Adjacent 2 meiotic disjunction. report of a case resulting from a familial 13q;15q balanced reciprocal translocation and review of the literature.

作者信息

Duckett D P, Roberts S H

出版信息

Hum Genet. 1981;58(4):377-86. doi: 10.1007/BF00282819.

Abstract

An abnormal short-lived female infant with almost complete trisomy 13 (pter leads to q32 or 33) and partial monosomy 15 (pter leads to q14 or 15) resulting from an adjacent 2 meiotic disjunction of a paternal reciprocal translocation is described. Cases with monosomy of chromosome 15 material are reviewed. It appears likely that monosomy of an interstitial long arm segment, approximating to 15q21 leads to 24, imparts the lethality associated with the full monosomic condition. Adjacent 2 disjunction in man has been further characterised by reviewing the literature.

摘要

本文描述了一名异常的短命女婴,其因父源相互易位的相邻2减数分裂分离而导致几乎完全的13三体(pter至q32或33)和部分15单体(pter至q14或15)。对15号染色体物质单体的病例进行了综述。看来,接近15q21的间质长臂片段的单体导致了24,赋予了与完全单体状态相关的致死性。通过文献综述,对人类相邻2分离进行了进一步的特征描述。

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