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

Academic Article

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. © 2008 Wiley-Liss, Inc.
  • Published In

    Digital Object Identifier (doi)

    Author List

  • Descartes M; Hain JZ; Conklin M; Franklin J; Mikhail FM; Lachman RS; Nolet S; Messiaen LM
  • Start Page

  • 2937
  • End Page

  • 2943
  • Volume

  • 146
  • Issue

  • 22