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G-banded chromosome analysis: Valuable resource as illustrated by a prenatal case of mosaic tetrasomy 9P.

Authors :
Kulkarni A.
Krishnaswamy R.
Sun L.
Gugasyan L.
Falcone A.
Kulkarni A.
Krishnaswamy R.
Sun L.
Gugasyan L.
Falcone A.
Publication Year :
2018

Abstract

9p tetrasomy is a rare chromosomal imbalance defined by the presence of a supernumerary isochromosome involving the short arm of chromosome 9, or isodicentric chromosome that additionally includes 9q material. Prenatal diagnosis of mosaic or non-mosaic tetrasomy 9p is uncommon. Here we present a prenatal case of mosaic tetrasomy 9p in a fetus with multiple abnormalities using CGH microarray where conventional karyotyping assisted in elucidating the nature of the imbalance. While microarray provides a significant advantage in terms of resolution, it has limited capacity to ascertain the cytogenetic mechanism of copy number changes identified.

Details

Database :
OAIster
Publication Type :
Electronic Resource
Accession number :
edsoai.on1308883196
Document Type :
Electronic Resource