Unusual Chromosomal Rearrangement Resulted in Interstitial Monosomy 9p: Case Report

Durmaz C. D., Yararbas K., KUTLAY N., Turedi O., Akin I., Gurbuz C., ...Daha Fazla

CYTOGENETIC AND GENOME RESEARCH, cilt.148, sa.1, ss.19-24, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 148 Sayı: 1
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1159/000444872
  • Dergi Adı: CYTOGENETIC AND GENOME RESEARCH
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.19-24
  • Anahtar Kelimeler: 9p deletion, Chromosome 13, Complex chromosomal rearrangements, Insertion, Mental retardation, Multiple congenital abnormalities, DELETION, MECHANISMS
  • Hacettepe Üniversitesi Adresli: Hayır

Özet

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. (C) 2016 S. Karger AG, Basel.