Postnatal diagnosis of constitutive ring chromosome 13 using both conventional and molecular cytogenetic approaches

Genet Mol Res. 2015 Mar 6;14(1):1692-9. doi: 10.4238/2015.March.6.15.

Abstract

We describe the first postnatal diagnosis of a child from Central Brazil with de novo cytogenetic alterations in 13q showing malformations of the brain, eyes, distal limbs, and genitourinary tract, and severe intellectual disability. The karyotype was a constitutive 46,XX,r(13)[77]/45,XX,-13[17]/46,XX,idic r(13)[6]. Interphase and metaphase fluorescence in situ hybridization analyses also showed the absence of 13qter and the presence of 13q14.3 in the cells with r(13), and chromosome microarray analysis detected a 15.39 Mb deletion in chromosome region 13q32.3-q34. This study is intended as the registry of a rare case of chromosomal rearrangement involving chromosome 13 in Central Brazil. Further studies are needed to define whether genetic haploinsufficiency is associated with each major 13q deletion anomaly.

Publication types

  • Case Reports

MeSH terms

  • Brazil
  • Chromosome Deletion
  • Chromosome Disorders / diagnosis*
  • Chromosome Disorders / genetics
  • Chromosomes, Human, Pair 13 / genetics
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Interphase
  • Karyotyping
  • Phenotype
  • Ring Chromosomes

Supplementary concepts

  • 13q deletion syndrome
  • Chromosome 13 ring