Identification of an unbalanced X-autosome translocation by array CGH in a boy with a syndromic form of chondrodysplasia punctata brachytelephalangic type

Eur J Med Genet. Jul-Sep 2005;48(3):301-9. doi: 10.1016/j.ejmg.2005.04.014.


Screening of a large series of patients with unexplained mental retardation with a 1 Mb BAC array resulted in the detection of several cryptic chromosomal imbalances. In this paper we present the findings of array CGH screening in a 14-year-old boy with the brachytelephalangic type of chondrodysplasia punctata, mental retardation and obesity. On several occasions, cytogenetic analysis of this boy revealed a normal karyotype. Subsequent screening with array CGH resulted in the detection of a distal 9p trisomy and distal Xp nullisomy caused by an unbalanced X;9 translocation: 46,Y,der(X)t(X;9)(p22.32;p23). The identification of this de novo chromosomal rearrangement not only made accurate genetic counselling possible but also explained most of the phenotypic abnormalities observed in this patient. This study confirms the power of array CGH in the detection of subtle or submicroscopic chromosomal changes.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Chondrodysplasia Punctata / diagnosis
  • Chondrodysplasia Punctata / genetics*
  • Chromosomes, Human, Pair 9 / genetics
  • Chromosomes, Human, X / genetics*
  • DNA / analysis
  • Hand Deformities, Congenital / diagnosis
  • Hand Deformities, Congenital / genetics
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Male
  • Nucleic Acid Hybridization / methods
  • Obesity / genetics*
  • Oligonucleotide Array Sequence Analysis / methods*
  • Translocation, Genetic*
  • Trisomy / genetics


  • DNA