产前检测到的标记染色体经（微）荧光原位杂交鉴定为i(22)(p10)。

Prenatally detected marker chromosome identified as an i(22)(p10) using (micro)FISH.

作者信息

Engelen J J, Tuerlings J H, Albrechts J C, Schrander-Stumpel C T, Hamers A J, De Die-Smulders C E

机构信息

Department of Molecular Cell Biology and Genetics, University Maastricht, The Netherlands.

出版信息

Genet Couns. 2000;11(1):13-7.

PMID:10756422

Abstract

MicroFISH was used to elucidate the chromosomal origin of a prenatally detected marker chromosome. Five copies of the marker chromosome were collected from GTG-banded metaphases and amplified by means of DOP-PCR. The PCR product was labeled with blotine-14-dATP and used as a FISH probe for hybridization to metaphase chromosomes of the fetus (reverse painting). The marker appeared to be derived from the short arm of (an) acrocentric chromosome(s). After FISH with centromere-specific and band-specific probes complete characterization was possible and the marker chromosome appeared to consist of two short arms of chromosome 22. The pregnancy was continued and one year after birth the patient is developing normal.

摘要

采用微荧光原位杂交技术（MicroFISH）来阐明产前检测到的一条标记染色体的染色体起源。从GTG显带中期相中收集5条标记染色体，并通过引物介导的PCR（DOP-PCR）进行扩增。PCR产物用生物素-14-dATP标记，并用作荧光原位杂交（FISH）探针与胎儿中期染色体杂交（反向涂染）。该标记染色体似乎来源于一条（或多条）近端着丝粒染色体的短臂。在用着丝粒特异性和带特异性探针进行荧光原位杂交后，得以完成全面的特征分析，该标记染色体似乎由两条22号染色体的短臂组成。妊娠继续进行，患儿出生一年后发育正常。