Perrone M.D.,Institute for Maternal and Child Health |
Perrone M.D.,University of Trieste |
Rocca M.S.,IRCCS Burlo Garofalo Institute |
Bruno I.,IRCCS Burlo Garofalo Institute |
And 3 more authors.
European Journal of Medical Genetics | Year: 2012
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. © 2011 Elsevier Masson SAS.