title: Report on a patient with a 12q24.31 microdeletion inherited from an insulin-dependent diabetes mellitus father.
abstract: We report a 2.3-year-old female patient with global developmental delay, infantile spasms, hypotonia, microcephaly, flat face, full cheeks, macroglossia, highly arched palate, retro-gnathia, narrow ear orifices, and café-au-lait spots. Molecular karyotyping revealed approximately a 1-Mb interstitial deletion of the long arm of one chromosome 12, del(12)(q24.31). The same deletion was identified in her father who presents insulin-dependent diabetes mellitus (IDDM) diagnosed at 14 years. Only one other patient with a similar de novo deletion has been reported previously [Mol Syndromol 2010;1:42-45]. A phenotype-genotype correlation is discussed, and the description of a novel rare microdeletion entity is raised.
authors: Unité de Génétique Médicale et Laboratoire Associé INSERM à l'Unité UMR_S 910, Pôle Technologie Santé, Université Saint-Joseph, Beirut, Lebanon.
authors: E
authors: E
authors: Chouery
authors: N
authors: N
authors: Choucair
authors: J
authors: J
authors: Abou Ghoch
authors: S
authors: S
authors: El Sabbagh
authors: S
authors: S
authors: Corbani
authors: A
authors: A
authors: Mégarbané
keywords: Chromosome 12q; Developmental delay; HNF1A; Haploinsufficient; Microdeletion 12q24.31
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