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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.

SUBMITTER: Chouery E

PROVIDER: S-EPMC3638924 | biostudies-literature | 2013 Mar

REPOSITORIES: biostudies-literature

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Report on a patient with a 12q24.31 microdeletion inherited from an insulin-dependent diabetes mellitus father.

Chouery E E Choucair N N Abou Ghoch J J El Sabbagh S S Corbani S S Mégarbané A A

Molecular syndromology 20130115 3

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 ...[more]

PMID: 23653585

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