Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

Eur J Hum Genet. 2017 Aug;25(8):930-934. doi: 10.1038/ejhg.2017.93. Epub 2017 Jun 14.

Abstract

Sex chromosome aneuploidies (SCA) is a group of conditions in which individuals have an abnormal number of sex chromosomes. SCA, such as Klinefelter's syndrome, XYY syndrome, and Triple X syndrome are associated with a large range of neurological outcome. Another genetic event such as another cytogenetic abnormality may explain a part of this variable expressivity. In this study, we have recruited fourteen patients with intellectual disability or developmental delay carrying SCA associated with a copy-number variant (CNV). In our cohort (four patients 47,XXY, four patients 47,XXX, and six patients 47,XYY), seven patients were carrying a pathogenic CNV, two a likely pathogenic CNV and five a variant of uncertain significance. Our analysis suggests that CNV might be considered as an additional independent genetic factor for intellectual disability and developmental delay for patients with SCA and neurodevelopmental disorder.

MeSH terms

  • Chromosomes, Human, X / genetics
  • DNA Copy Number Variations
  • Developmental Disabilities / diagnosis
  • Developmental Disabilities / genetics*
  • Female
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Male
  • Phenotype
  • Sex Chromosome Aberrations
  • Sex Chromosome Disorders / diagnosis
  • Sex Chromosome Disorders / genetics*
  • Sex Chromosome Disorders of Sex Development / diagnosis
  • Sex Chromosome Disorders of Sex Development / genetics*
  • Trisomy / diagnosis
  • Trisomy / genetics*
  • XYY Karyotype / diagnosis
  • XYY Karyotype / genetics*

Supplementary concepts

  • 47, XYY syndrome
  • Triple X syndrome