Jumping translocation of 15q24-qter resulting in partial trisomy: A case report

Márta Czakó, Kinga Hadzsiev, Béla Melegh, György Kosztolányi

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)155-159
Number of pages5
JournalGene
Volume503
Issue number1
DOIs
Publication statusPublished - Jul 15 2012

Keywords

  • Chromosome 15
  • Hemihypertrophy
  • Instability
  • Interstitial telomeric sequence
  • Mosaicism
  • Non-reciprocal translocation

ASJC Scopus subject areas

  • Genetics

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