کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8389001 | 1543949 | 2018 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Discovering a familial Xp11.4 microduplication: Does the mother matter?
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کلمات کلیدی
ADI-RArray-CGHXCIAutism Diagnostic Observation Schedule - برنامه ریزی تشخیص اوتیسمX chromosome inactivation - غیر فعال کردن کروموزوم Xfluorescence in situ hybridization - فلورسانس در هیبریداسیون در محلFish - ماهیAutism Diagnostic Interview-Revised - مصاحبه تشخیصی اوتیسم- اصلاح شدهintellectual disability - ناتوانی ذهنیADOS - نوجوانانMental retardation - کمتوانی ذهنی
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
Interstitial duplications of the short arm of the X chromosome have been rarely described, especially in males. Usually boys present mental retardation, multiple congenital abnormalities and short stature. We describe two sons one with a 2q37.3 deletion and a Xp11.4 duplication and the other with Xp11.4 duplication only, identified by array-CGH. They both presented a phenotype characterized by poor growth, mild facial dysmorphisms, autism and developmental delay. The 2q37.3 identified chromosomal anomaly was inherited from the healthy father and included approximately 8 known genes, while the Xp11.4 duplication resulted inherited from the healthy mother and involved 13 known genes. Of these TSPAN7 and CASK, localized on Xp11.4, genes are of special interest. The alteration on the X chromosome could be more related to the clinical feature presented by the two brothers, while the anomaly on the chromosome 2 is more likely a polymorphism or might influence the phenotype correlated to the Xp11.4 duplication. The healthy phenotype of the mother could be explained by X chromosome inactivation (XCI) phenomenon.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Meta Gene - Volume 16, June 2018, Pages 90-95
Journal: Meta Gene - Volume 16, June 2018, Pages 90-95
نویسندگان
Chiara Palka, Stefania De Marco, Melissa Alfonsi, Sara Matricardi, Edoardo Errichiello, Elisena Morizio, Paolo Guanciali Franchi, Giuseppe Calabrese, Angelika Mohn, Francesco Chiarelli,