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3号染色体缺失(p25.3),无表型效应。

Del(3) (p25.3) without phenotypic effect.

作者信息

Knight L A, Yong M H, Tan M, Ng I S

机构信息

Department of Pathology, Singapore General Hospital.

出版信息

J Med Genet. 1995 Dec;32(12):994-5. doi: 10.1136/jmg.32.12.994.

Abstract

A terminal deletion of chromosome 3 at p25.3 was observed during prenatal diagnosis. A similar deletion is also present in the phenotypically normal mother. The deletion was confirmed by FISH. The breakpoint is distal to the region responsible for the 3p- syndrome. A normal baby girl was born with no apparent phenotypic abnormalities.

摘要

产前诊断期间观察到3号染色体p25.3处的末端缺失。在表型正常的母亲中也存在类似的缺失。通过荧光原位杂交(FISH)证实了该缺失。断点位于负责3p-综合征区域的远端。一名正常女婴出生,无明显表型异常。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0aff/1051787/1ba69f4fb5a2/jmedgene00279-0076-a.jpg

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