کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5904973 1569502 2013 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Mosaic 15q13.3 deletion including CHRNA7 gene in monozygotic twins
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
Mosaic 15q13.3 deletion including CHRNA7 gene in monozygotic twins
چکیده انگلیسی

Deletions in 15q13.3 belong to the most frequently identified recurrent CNVs, and lead to mental retardation, seizures and minor dysmorphism. We report on two monozygotic twin boys with a mosaic 1.5 Mb deletion in 15q13.3, including CHRNA7. The growth parameters were in the normal range for both twins. Both had language delay with hyperactivity, temper tantrums and poor social interaction but attended regular school. The percentage of abnormal cells was 40% on lymphocytes, and 25 and 35% on buccal smear in the first and second twins, respectively. The mosaicism for the 15q13.3 deletion can explain the milder phenotype observed in these two boys.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 56, Issue 5, May 2013, Pages 274-277
نویسندگان
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