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- W2327604214 abstract "Terminal deletions of chromosome 3p26.3 confined to the <i>CHL1</i> gene have previously been described in children with intellectual disability and epilepsy. Here, we report for the first time, a 3p26.3 duplication including only the <i>CHL1</i> gene in an intellectually disabled girl with epilepsy. The penetrance of both deletions and duplications in 3p26.3 is reduced because all chromosomal imbalances were inherited from healthy parents. Further studies are needed to specify the pathogenic mechanism of 3p26.3 imbalances and to estimate recurrence risks in genetic counseling. However, the description of both deletions and duplications of chromosome 3p26.3 in nonsyndromic intellectual disability suggests that <i>CHL1</i> is a dosage-sensitive gene with an important role for normal cognitive development." @default.
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- W2327604214 date "2013-02-22" @default.
- W2327604214 modified "2023-10-16" @default.
- W2327604214 title "Microduplication of 3p26.3 in Nonsyndromic Intellectual Disability Indicates an Important Role of CHL1 for Normal Cognitive Function" @default.
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- W2327604214 doi "https://doi.org/10.1055/s-0033-1333874" @default.
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