PRENATAL DIAGNOSIS OF A NEW CASE: DE NOVO
BALANCED NON-ROBERTSONIAN TRANSLOCATION
INVOLVING t(15;22)(p11.2;q11.2) Atli Eİ, Gurkan H, Atli E, Tozkir H, Varol GF, İnan C *Corresponding Author: Emine İkbal Atli, Ph.D., Department of Medical Genetics Faculty of Medicine
Trakya University, Edirne, Turkey. Tel: +90-554-253-40-30. Fax: +90-284-223-33-14.
Email: emine.ikbal@ gmail.com page: 69 download article in pdf format
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Abstract
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.
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