Unusual chromosomal rearrangement resulted in interstitial Monosomy 9p: Case report

Durmaz C. D., Yararbaş K., KUTLAY N., Türedi Ö., Akin I., Gürbüz C., ...More

Cytogenetic and Genome Research, vol.148, no.1, pp.19-24, 2016 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Abstract
  • Volume: 148 Issue: 1
  • Publication Date: 2016
  • Doi Number: 10.1159/000444872
  • Journal Name: Cytogenetic and Genome Research
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.19-24
  • Keywords: 9p deletion, Chromosome 13, Complex chromosomal rearrangements, Insertion, Mental retardation, Multiple congenital abnormalities
  • Ankara University Affiliated: Yes

Abstract

© 2016 S. Karger AG, Basel.We report on a 4.5-year-old boy with interstitial monosomy 9p in a unique and complex de novo rearrangement. The patient had been referred for craniofacial dysmorphism, delayed psychomotor development, and various congenital malformations. We combined cytogenetic studies and FISH analyses to delineate the deletion. The result of our cytogenetic studies was 46,XY,der(9)(p22pter). In order to confirm the deletion, we also performed FISH analysis, which showed that the 9p subtelomeric region was inserted into chromosome 13. Molecular karyotyping was performed to describe the exact genomic breakpoints of the rearrangement. In conclusion, this case is a complex insertion/deletion abnormality which has not been reported before.