Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up.

ABSTRACT:

Background

Copy number variations at 2p11.2 have been rare and to our knowledge, no abnormal phenotype with an interstitial 2p11.2 duplication has yet been reported. Here we report the first case with syndromic intellectual disability associated with microduplication at 2p11.2.

Results

We revisited a white female subject with a chromosome translocation, t(8;10)(p23;q23)mat and a 10q telomeric deletion suspected by G-banding 30 years ago. This female with severe intellectual disability, no speech, facial dysmorphism, intractable epilepsy, recurrent infection, and skeletal abnormalities has been observed from the birth until her death. The karyotype analysis reconfirmed the previously reported chromosome translocation with a revision as 46,XX,t(8;10)(p23.3;q23.2)mat by adding

SUBMITTER: Jun KR 

PROVIDER: S-EPMC4188067 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature