Dataset Information

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 more detail in chromosomal sub-bands. The array comparative genomic hybridization, however, did not detect the 10q terminal deletion originally reported, but instead, revealed a 390 kb duplication at 2p11.2; 46,XX,t(8;10)(p23.3;q23.2)mat.arr[hg 19] 2p11.2(85469151x2,85474356-85864257x3,85868355x2). This duplication region was confirmed by real-time quantitative PCR and real-time reverse transcriptase quantitative PCR. CONCLUSIONS:We suggest three positional candidate genes for intellectual disability and recurrent infection based upon gene function and data from real-time reverse transcriptase quantitative PCR-VAMP8 and RNF181 for intellectual disability and CAPG for recurrent infection.

SUBMITTER: Jun KR

PROVIDER: S-EPMC4188067 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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

Jun Kyung Ran KR Ullmann Reinhard R Khan Saadullah S Layman Lawrence C LC Kim Hyung-Goo HG

Molecular cytogenetics 20140819

<h4>Background</h4>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.<h4>Results</h4>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 disabi ...[more]

PMID: 25295072

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Project description:BackgroundOffenders with intellectual disability (ID) constitute a distinct subgroup of offenders with mental disorders. Regarding criminal recidivism, it is unclear whether or not offenders with ID in forensic psychiatric settings differ from offenders without ID. Factors associated with criminal recidivism among offenders with ID have been scarcely investigated.AimTo investigate the association between ID and criminal recidivism among offenders sentenced to forensic psychiatric care and to explore the impact of clinical, sociodemographic and offense variables.Materials and methodsWe conducted a retrospective cohort study based on Swedish nationwide registers. A total of 3,365 individuals being sentenced to forensic psychiatric care in Sweden in 1997-2013 were followed from the forensic psychiatric assessment until first reconviction, death, emigration, or 31 December 2013, whichever occurred first. Cox regression models compared rates of recidivism in individuals with and without ID. Impact of clinical, sociodemographic, and offense variables on risk of criminal recidivism was presented as hazard ratios (HRs) with 95% confidence intervals (CIs).ResultsOut of 3,365 offenders sentenced to forensic psychiatric care, 259 (7.7%) were diagnosed with ID. During follow-up (0-17 years, median 6 years), one third (n = 1,099) of the study population relapsed into criminality, giving a recidivism rate of 50.5 per 1,000 person-years. We observed an association between ID and a decreased risk of recidivism (HR 0.8, 95% CI 0.6-1.0, p = 0.063), although this reached statistical significance only for the subgroup of male offenders (HR 0.8, 95% CI 0.6-1.0, p = 0.040) and not females (HR 1.0, 95% CI 0.6-1.8). ID offenders with concurrent ADHD tended to have a higher rate of recidivism (73.9 per 1,000 person-years, HR 1.2, 95% CI 0.6-2.4) than ID offenders without ADHD (42.5 per 1,000 person-years, HR 0.8, 95% CI 0.6-1.1). Amongst ID offenders, concurrent autism spectrum disorder, young age or male sex were not associated with recidivism, while previous criminal convictions were strongly associated with recidivism.ConclusionA diagnosis of ID was associated with a lower risk of criminal recidivism among male offenders sentenced to forensic psychiatric care. The association between ADHD and recidivism among ID offenders highlights eligible focus areas in the management of offenders with ID.

Dataset Information

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

Publications

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

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