经光谱核型分析和亚端粒探针鉴定，新发镶嵌型add(3)表现为14号染色体长臂31区至末端三体。

De novo mosaic add(3) characterized to be trisomy 14q31-qter using spectral karyotyping and subtelomeric probes.

作者信息

Reddy K S, Sulcova V, Young H, Blancato J K, Haddad B R

机构信息

Quest Diagnostics Incorporated, San Juan Capistrano, California 92690, USA.

出版信息

Am J Med Genet. 1999 Feb 12;82(4):318-21. doi: 10.1002/(sici)1096-8628(19990212)82:4<318::aid-ajmg8>3.0.co;2-0.

DOI:10.1002/(sici)1096-8628(19990212)82:4<318::aid-ajmg8>3.0.co;2-0

PMID:10051165

Abstract

We describe a 19-year-old patient with a de novo mosaic add(3) chromosome (extra material of unknown origin on the 3q). The use of spectral karyotyping and fluorescence in situ hybridization using subtelomeric probes permitted the full characterization of the cytogenetic abnormality. The additional material on 3q was found to originate from 14q31-qter. This is one of the few reported cases with trisomy 14q31-qter and is the first mosaic case.

摘要

我们描述了一名19岁的患者，其存在一条从头发生的3号染色体嵌合附加体（3q上有来源不明的额外物质）。使用光谱核型分析以及使用亚端粒探针的荧光原位杂交技术，得以对该细胞遗传学异常进行全面表征。发现3q上的额外物质源自14q31-qter。这是少数几例报道的14q31-qter三体病例之一，并且是首例嵌合病例。