De Novo Three-Way Chromosome Translocation [46,XX,t(1;20;4) (p32;q12;q32)] in a Patient with Developmental Delay: A Case Report

Year 2013, Volume: 7 Issue: 1,EK, 7 - 10, 01.06.2013

Ali Karaman Tülay Tos

Abstract

Complex chromosome rearrangements (CCRs) involve more than two breakpoints on two or more chromosomes are uncommon occurrences. We report a female with developmental delay with a complex three-way balanced translocation [46,XX,t(1;4;20)(p32;q32;q12)] identified by karyotyping.This paper is the first report of reciprocal translocation involving 1p, 4q and 20q associated with the developmental delay. The developmental delay may be due to the rearrangement of genetic material at these breakpoints and this incident may cause developmental delay

Keywords

Chromosomal translocation, Developmental, delay

Gelişme Geriliği Olan Bir Hastada Yeni Oluşum Üçlü Kromozom Translokasyonu [46,XX,t(1;20;4)(p32;q12;q32)]: Bir Olgu Sunumu

Abstract

Kompleks kromozom düzenlenmeleri iki ya da daha çok kromozomda ikiden fazla kırılma noktasını içeren sık olmayan oluşumlardır. Biz karyotip analizi sonucunda kompleks bir üçlü dengeli translokasyonlu [46,XX,t(1;4;20)(p32;q32;q12)] gelişme geriliği olan bir kız çocuğu rapor ediyoruz. Bu yazı 1p, 4q ve 20q içeren resiprokal translokasyon ile gelişme geriliğinin birlikte olduğu ilk rapordur. Sorun muhtemelen kritik bir ilişkiye sahip bu kırık noktalarında genetik materyalin yeniden düzenlenmesine bağlı olabilir ve bu olay gelişimsel gecikmeye neden olabilir.

Keywords

Kromozomal translokasyon, Gelişme, geriliği

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