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[伴有异常表型的平衡染色体重排]

[Balanced chromosome rearrangements with abnormal phenotype].

作者信息

Philip N, Mattei M G, Pellissier M C, Mattei J F, Giraud F

机构信息

Centre de Génétique Médicale, Hôpital d'enfants de la Timone, Marseille.

出版信息

J Genet Hum. 1988 Jan;36(1-2):37-43.

PMID:3379378
Abstract

27 cases in which apparent balanced chromosomal rearrangements (reciprocal and translocations and pericentric inversions) are associated with phenotypic abnormalities are reported and compared with the previous published cases. Almost all patients display mental retardation and a non specific dysmorphism. Genetic counseling is different whether the abnormality is inherited or de novo. When an unexpected structural rearrangements is found in fetal cells, the attitude depends on the results of the parent's chromosomal study.

摘要

报告了27例明显的染色体平衡重排(相互易位、臂间倒位)与表型异常相关的病例,并与先前发表的病例进行了比较。几乎所有患者都有智力发育迟缓及非特异性畸形。根据异常是遗传的还是新发的,遗传咨询有所不同。当在胎儿细胞中发现意外的结构重排时,处理方式取决于父母染色体检查的结果。

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