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与6号环状染色体相关的发育异常。

Developmental abnormalities associated with a ring chromosome 6.

作者信息

Moore C M, Heller R H, Thomas G H

出版信息

J Med Genet. 1973 Sep;10(3):299-303. doi: 10.1136/jmg.10.3.299.

Abstract

A clinical and cytogenetic report is made of a patient with microcephaly, peculiar facies, and retardation of physical and mental development, who possesses a karyotype containing a ring chromosome No. 6 identified by Q-staining with quinacrine mustard. This is the first report of a ring autosome in the C group to be identified. Comparison with other patients reported as having C-group autosomal rings failed to reveal many common phenotypic characteristics.

摘要

本文报告了一名患有小头畸形、特殊面容以及身心发育迟缓的患者的临床和细胞遗传学情况。该患者的核型经喹吖因氮芥Q显带鉴定,含有一条6号环状染色体。这是首次报告在C组中鉴定出的环状常染色体。将该患者与其他报告患有C组常染色体环状结构的患者进行比较,未发现许多共同的表型特征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e550/1013038/bf76c585a4d1/jmedgene00324-0100-a.jpg

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