title: De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature.
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.
authors.affiliation: Institute for Maternal and Child Health IRCCS Burlo Garofalo Trieste, Italy - University of Trieste, Italy. perrone@burlo.trieste.it
authors.forename: M D
authors.initials: MD
authors.lastname: Perrone
authors.forename: M S
authors.initials: MS
authors.lastname: Rocca
authors.forename: I
authors.initials: I
authors.lastname: Bruno
authors.forename: F
authors.initials: F
authors.lastname: Faletra
authors.forename: V
authors.initials: V
authors.lastname: Pecile
authors.forename: P
authors.initials: P
authors.lastname: Gasparini
mesh_terms: D002648:Child; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D017384:Sequence Deletion / Q000235:genetics