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

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

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

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

Authors

J J Engelen¹, J H Tuerlings, J C Albrechts, C T Schrander-Stumpel, A J Hamers, C E De Die-Smulders

Affiliation

¹ Department of Molecular Cell Biology and Genetics, University Maastricht, The Netherlands.

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.

Publication types

Case Reports

MeSH terms

Chromosome Inversion*
Chromosomes, Human, Pair 22*
Female
Genetic Markers
Humans
In Situ Hybridization, Fluorescence / methods*
Polymerase Chain Reaction
Pregnancy
Prenatal Diagnosis*

Substances

Genetic Markers