EPRENATAL DIAGNOSIS OF A NEW CASE: DE NOVO BALANCED NON-OBERTSONIAN TRANSLOCATION INVOLVING t(15;22)(p11.2;q11.2)

Küçük Resim Yok

Tarih

2018

Dergi Başlığı

Dergi ISSN

Cilt Başlığı

Yayıncı

Macedonian Acad Sciences Arts

Erişim Hakkı

info:eu-repo/semantics/openAccess

Özet

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.

Açıklama

Anahtar Kelimeler

Array Comparative Genomic Hybridization (Array-CGH), Chorion Villus Sampling (CVS), Cytogenetics, Fluorescence In Situ Hybridization (FISH), Non-Robertsonian Translocation (Non-ROB)

Kaynak

Balkan Journal Of Medical Genetics

WoS Q Değeri

Q4

Scopus Q Değeri

Q4

Cilt

21

Sayı

2

Künye