Prenatal diagnosis of a new case: De novo balanced non-Robertsonian translocation involving t(15;22)(p11.2;q11.2)

Autor:	Emine Ikbal Atli, Hilmi Tozkir, Cihan Inan, Engin Atli, GF Varol, Hakan Gurkan
Jazyk:	angličtina
Rok vydání:	2018
Předmět:	0301 basic medicine medicine.medical_specialty Robertsonian translocation Case Report Chromosomal translocation Biology QH426-470 medicine.disease_cause cytogenetics 03 medical and health sciences Chromosome 15 0302 clinical medicine Centromere medicine Genetics Genetics (clinical) fluorescence in situ hybridization (fish) 030219 obstetrics & reproductive medicine Cytogenetics Karyotype chorion villus sampling (cvs) 030104 developmental biology array comparative genomic hybridization (array-cgh) non-robertsonian translocation (non-rob) Chromosome 22 Comparative genomic hybridization
Zdroj:	Balkan Journal of Medical Genetics, Vol 21, Iss 2, Pp 69-72 (2018) Balkan Journal of Medical Genetics : BJMG
ISSN:	1311-0160
Popis:	The balanced non-Robertsonian translocation (ROB) associated with acrocentric chromosomes is an unusual phenomenon. We report the case of rare non-ROB involving chromosomes 15 and 22 with cytogenetic and molecular cytogenetic findings of 46,XY,t(15;22)(p11.2;q11.2). To the best of our knowledge, t(15;22) is the first report of this breakpoint that is not the usual non-ROB. The karyotype of the chorionic villus cell was 46,XY,t(15;22)(p11.2; q11.2) from two different initial cultures. This is different from the usual non-ROB of acrocentric chromosomes. Comparative genomic hybridization has been performed to determine the chromosomal origin. Non-Robertsonian translocation associated with acrocentric chromosomes is an unusual event and only a few cases have been reported. In this study, we observed acrocentric chromosomes 15 and 22 as a rarely balanced non-ROB, where satellites of chromosome 15 translocated to chromosome 22 and part of chromosome 22 were translocated to chromosome 15. To the best of our knowledge, our patient is the first case reported in the literature for this translocation in prenatal and postnatal periods.
Databáze:	OpenAIRE
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