通过荧光原位杂交（FISH）诊断出的9号染色体短臂镶嵌重复（Mosaic dup (9p)）

Mosaic dup (9p) diagnosed by fluorescence in situ hybridization (FISH).

作者信息

Petty E M, Gibson L H, Breg W R, Burns J P, Yang-Feng T L

机构信息

Department of Genetics, Yale University School of Medicine, New Haven, CT 06510.

出版信息

Am J Med Genet. 1993 Mar 15;45(6):770-3. doi: 10.1002/ajmg.1320450622.

DOI:10.1002/ajmg.1320450622

PMID:8456860

Abstract

We describe a girl with some manifestations of the dup (9p) syndrome. High-resolution Giemsa-banded karyotype of her lymphocytes documented that she was mosaic with 80% of cells being 46,XX, and 20% 46,XX,-20, + der(20;?) (p13;?). The additional material on 20p could not be defined clearly by high-resolution Giemsa banding, as the banding pattern appeared consistent with either distal 9p or distal 13q. In order to make a definitive cytogenetic diagnosis, we used fluorescence in situ hybridization (FISH) with a chromosome 9 specific DNA library to establish that the origin of the additional chromosomal material on chromosome 20 was from 9p. FISH used in this situation enabled us to counsel the family specifically regarding the prognosis and manifestations of distal 9p duplication.

摘要

我们描述了一名患有 dup(9p)综合征某些表现的女孩。对其淋巴细胞进行高分辨率吉姆萨染色核型分析表明，她是嵌合体，80%的细胞为 46,XX，20%为 46,XX,-20,+der(20;?)(p13;?)。高分辨率吉姆萨染色无法清晰界定 20p 上的额外物质，因为其带型模式与 9p 远端或 13q 远端一致。为了做出明确的细胞遗传学诊断，我们使用了针对 9 号染色体的特异性 DNA 文库进行荧光原位杂交（FISH），以确定 20 号染色体上额外染色体物质的来源是 9p。在这种情况下使用 FISH 使我们能够就 9p 远端重复的预后和表现向家庭提供具体的咨询。