@article {1804,
	title = {De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature.},
	journal = {Eur J Med Genet},
	volume = {55},
	year = {2012},
	month = {2012 Feb},
	pages = {117-9},
	abstract = {<p>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.</p>},
	keywords = {Child, Chromosomes, Human, Pair 1, Dwarfism, Humans, Intellectual Disability, Male, Sequence Deletion},
	issn = {1878-0849},
	doi = {10.1016/j.ejmg.2011.11.004},
	author = {Perrone, M D and Rocca, M S and Bruno, I and Faletra, F and Pecile, V and Gasparini, P}
}
