De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature

M. D. Perrone, M. S. Rocca, I. Bruno, F. Faletra, V. Pecile, P. Gasparini

Research output: Contribution to journalArticlepeer-review

Abstract

Patients with distal deletions of chromosome 1q have a recognizable syndrome that includes microcephaly, hypoplasia or agenesis of the corpus callosum, and psychomotor retardation. Although these symptoms have been attributed to deletions of 1q42-1q44, the minimal chromosomal region involved has not yet defined. In this report, we describe a 7 years old male with mental retardation, cryptorchid testes, short stature and alopecia carrying only an interstitial de novo deletion of 911 Kb in the 1q43 region (239,597,095-240,508,817) encompassing three genes CHRM3, RPS7P5 and FMN2.

Original languageEnglish
Pages (from-to)117-119
Number of pages3
JournalEuropean Journal of Medical Genetics
Volume55
Issue number2
DOIs
Publication statusPublished - Feb 2012

Keywords

  • Chromosome 1
  • Deletion
  • Mental retardation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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