کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8389316 | 1543956 | 2016 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization
دانلود مقاله + سفارش ترجمه
دانلود مقاله ISI انگلیسی
رایگان برای ایرانیان
کلمات کلیدی
ATRX5-BrdUHistone deacetylase 8XISTHDAC8PCDH19Occipitofrontal circumferenceaCGHOFC5-bromodeoxyuridinePWSCNVnuclear magnetic resonance - رزونانس مغناطیسی هستهایArray comparative genomic hybridization - اریبر هیبریداسیون ژنومی مقایسه ایMitochondrial disease - بیماری میتوکندریاییNMR - تشدید مغناطیسی هستهای copy number variation - تنوع نسخه کپیcomputed tomography - توموگرافی کامپیوتری یا سی تی اسکن یا مقطعنگاری رایانهایPrader-Willi syndrome - سندرم Prader-WilliPrader–Willi syndrome - سندرم Prader-WilliActivator - فعال کنندهfluorescence in situ hybridization - فلورسانس در هیبریداسیون در محلFish - ماهی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
بیوشیمی، ژنتیک و زیست شناسی مولکولی (عمومی)
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
We report on a 16-year-old boy with a maternally inherited ~Â 18.3 Mb Xq13.2-q21.31 duplication delimited by aCGH. As previously described in patients with similar duplications, his clinical features included intellectual disability, developmental delay, speech delay, generalized hypotonia, infantile feeding difficulties, self-injurious behavior, short stature and endocrine problems. As additional findings, he presented recurrent seizures and pubertal gynecomastia. His mother was phenotypically normal and had completely skewed inactivation of the duplicated X chromosome, as most female carriers of such duplications. Five previously reported patients with partial Xq duplications presented duplication breakpoints similar to those of our patient. One of them, a fetus with multiple congenital abnormalities, had the same cytogenetic duplication breakpoint. Three of the reported patients shared many features with our proband but the other had some clinical features of the Prader-Willi syndrome. It was suggested that ATRX overexpression could be involved in the major clinical features of patients with partial Xq duplications. We propose that this gene could also be involved with the obesity of the patient with the Prader-Willi-like phenotype. Additionally, we suggest that the PCDH11X gene could be a candidate for our patient's recurrent seizures. In males, the Xq13-q21 duplication should be considered in the differential diagnosis of Prader-Willi syndrome, as previously suggested, and neuromuscular diseases, particularly mitochondriopathies.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Meta Gene - Volume 9, September 2016, Pages 185-190
Journal: Meta Gene - Volume 9, September 2016, Pages 185-190
نویسندگان
Natália D. Linhares, Eugênia R. Valadares, Silvia S. da Costa, Rodrigo R. Arantes, Luiz Roberto de Oliveira, Carla Rosenberg, Angela M. Vianna-Morgante, Marta Svartman,