Jumping translocation of 15q24-qter resulting in partial trisomy: A case report
- 作者：Má ; rta Czakó ; ; marta.r.czako@aok.pte.hu ; Kinga Hadzsiev kinga.hadzsiev@aok.pte.hu ; Bé ; la Melegh bela.melegh@aok.pte.hu ; Gyö ; rgy Kosztolá ; nyi gyorgy.kosztolanyi@aok.pte.hu
- 关键词：JT ; jumping translocation ; FISH ; fluorescence in situ hybridization ; SNRPN ; small nuclear ribonucleoprotein polypeptide N (SNRPN) gene ; WCP ; whole chromosome painting FISH probe ; IT ; interstitial telomeric sequence(s) ; ST ; subtelomeric FISH probe
- 刊名：Gene
- 出版年：2012
- 期刊代码：73_03781119
- 类别：bio
- 出版时间：15 July, 2012
- 卷：503
- 期：1
- 页码：155-159
- 文件大小：158 K
摘要
We report on a jumping translocation with five different cell lines detected in four tissues in a 2-year-old patient. This rare type of chromosomal abnormality (not more than 30 cases published so far) proved to be a series of non-reciprocal translocations of the 15q24-qter donor chromosome segment to the telomeric region of chromosomes 5q, 10q, 16q and 19p, respectively. The process, in addition to a few cells without translocation, resulted in partial trisomy of 15q24-qter which was associated with somatic overdevelopment in the patient, with hemihypertrophy and minor anomalies.
The phenotype of our patient was different from that of the other two patients found in the literature having the same donor chromosome segment involved in a similar rearrangement. Possibly, the difference in the phenotype lies in the various ratios of somatic mosaicism with five cell lines, in particular the presence of normal one which is extremely rare in patients with jumping translocation. Here we discuss the various ways on how the rearrangement could arise.