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

doi:10.1016/j.ejmg.2011.11.004

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

Eur J Med Genet. 2012 Feb;55(2):117-9. doi: 10.1016/j.ejmg.2011.11.004. Epub 2011 Dec 2.

Authors

M D Perrone¹, M S Rocca, I Bruno, F Faletra, V Pecile, P Gasparini

Affiliation

¹ Institute for Maternal and Child Health IRCCS Burlo Garofalo Trieste, Italy - University of Trieste, Italy. [email protected]

PMID: 22186213
DOI: 10.1016/j.ejmg.2011.11.004

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.

MeSH terms

Child
Chromosomes, Human, Pair 1 / genetics*
Dwarfism / genetics*
Humans
Intellectual Disability / genetics*
Male
Sequence Deletion / genetics