Mosaic isochromosome 20q and normal outcome: a new case ascertained by fluorescence in situ hybridization and a review of the literature

J M Dupont; D Le Tessier; F Baverel; A Rouffet; D Rabineau

doi:10.1159/000264486

Mosaic isochromosome 20q and normal outcome: a new case ascertained by fluorescence in situ hybridization and a review of the literature

Fetal Diagn Ther. 1997 Sep-Oct;12(5):283-5. doi: 10.1159/000264486.

Authors

J M Dupont¹, D Le Tessier, F Baverel, A Rouffet, D Rabineau

Affiliation

¹ Groupe Hospitalier Cochin, Paris, France.

PMID: 9430209
DOI: 10.1159/000264486

Abstract

We describe a new case of mosaic isochromosome 20q revealed by amniocentesis. A 46,XX/46,XX,i(20q) chromosomic complement was indirectly confirmed by fluorescent in situ hybridization. Since control chromosome analysis performed on cord blood showed a normal karyotype, pregnancy was continued and resulted in the birth of a normal female infant.

Publication types

Review

MeSH terms

Adult
Amniocentesis
Amniotic Fluid / cytology*
Chromosomes, Human, Pair 20 / genetics*
Female
Humans
In Situ Hybridization, Fluorescence
Isochromosomes / genetics*
Karyotyping
Metaphase / genetics
Mosaicism / diagnosis*
Mosaicism / genetics
Phenotype
Pregnancy
Pregnancy Outcome