Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities

Am J Med Genet A. 2008 Nov 15;146A(22):2937-43. doi: 10.1002/ajmg.a.32550.

Abstract

Here we report on a patient with an interstitial deletion on the long(q) arm of chromosome 1 who presents with a unique constellation of anomalies including brachydactyly type E, Müllerian agenesis, growth hormone deficiency, as well as other abnormalities. We present the clinical details of this patient's presentation, the skeletal findings, and provide characterization of the deletion at the molecular level. We postulate that these skeletal anomalies are distinctive to 1q deletions involving the 1q24q25 region.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Bone and Bones / abnormalities*
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 1 / genetics*
  • Craniofacial Abnormalities / genetics
  • Craniofacial Abnormalities / pathology
  • Female
  • Humans
  • Intellectual Disability / genetics
  • Phenotype
  • Syndrome
  • Young Adult