کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5905057 | 1569520 | 2011 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Chromosomal imbalance letterDe novo deletion of chromosome 2q24.2 region in a mentally retarded boy with muscular hypotonia
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
ژنتیک
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Chromosomal imbalance letterDe novo deletion of chromosome 2q24.2 region in a mentally retarded boy with muscular hypotonia Chromosomal imbalance letterDe novo deletion of chromosome 2q24.2 region in a mentally retarded boy with muscular hypotonia](/preview/png/5905057.png)
چکیده انگلیسی
To date, more than 100 cases with a deletion of chromosome 2q have been identified, although studies reporting small interstitial deletions involving the 2q24.2-q24.3 region are still rare. Here, we have described the genotype and the phenotype of a boy with a 5.3Â Mb de novo deletion in this region, identified by SNP array analysis. The selected region included 20 genes, of which 4 are prominently expressed in the brain. Their combined haplo-insufficiency could explain the main clinical features of this patient which included mental retardation, severe hypotonia, joint laxity and mild dysmorphic traits.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 54, Issue 3, MayâJune 2011, Pages 361-364
Journal: European Journal of Medical Genetics - Volume 54, Issue 3, MayâJune 2011, Pages 361-364
نویسندگان
Chiara Magri, Giovanna Piovani, Alba Pilotta, Traversa Michele, Fabio Buzi, Sergio Barlati,