新发inv dup del(8p)病例的荧光原位杂交及单核苷酸多态性分析

Fluorescence in situ hybridization and single nucleotide polymorphism of a new case with inv dup del(8p).

作者信息

Caglayan A O, Engelen J J M, Ghesquiere S, Alofs M, Saatci C, Dundar M

机构信息

Kayseri Education and Research Hospital, Department of Medical Genetics, Kayseri, Turkey.

出版信息

Genet Couns. 2009;20(4):333-40.

PMID:20162868

Abstract

Fluorescence In Situ Hybridization and single nucleotide polymorphism of a new case with inv dup del(8p): Inverted duplication deletion of 8p [inv dup del(8p)] is a complex chromosome rearrangement leading among others to deletion of the chromosome region distal to the duplication in 8p. A new case with an inverted duplication deletion of 8p and the results of SNP-array analysis and fluorescence in situ hybridization (FISH) are reported here. Our results are in concordance with earlier reported inv dup del(8p) cases.

摘要

一个新发inv dup del(8p)病例的荧光原位杂交及单核苷酸多态性分析：8号染色体短臂的反向重复缺失[inv dup del(8p)]是一种复杂的染色体重排，除其他情况外，会导致8号染色体短臂重复远端的染色体区域缺失。本文报告了一例新发的8号染色体短臂反向重复缺失病例以及单核苷酸多态性阵列分析（SNP-array）和荧光原位杂交（FISH）的结果。我们的结果与先前报道的inv dup del(8p)病例一致。