Eprenatal diagnosis of a new case: de novo balanced non-obertsonian translocation involving
Küçük Resim Yok
Tarih
2018
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Macedonian Acad Sciences Arts
Erişim Hakkı
info:eu-repo/semantics/closedAccess
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
Journal Citation Reports
WoS Q Değeri
Scopus Q Değeri
Cilt
21
Sayı
2
Künye
Atli, E. İ., Gurkan, H., Atli, E., Tozkir, H., Varol, G. F., & İnan, C. (2018). Prenatal diagnosis of a new case: De novo balanced non-Robertsonian translocation involving t (15; 22)(p11. 2; q11. 2). Balkan Journal of Medical Genetics, 21(2), 69-72.
