کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3037110 | 1184399 | 2014 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
MAOA/B deletion syndrome in male siblings with severe developmental delay and sudden loss of muscle tonus
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: MAOA/B deletion syndrome in male siblings with severe developmental delay and sudden loss of muscle tonus MAOA/B deletion syndrome in male siblings with severe developmental delay and sudden loss of muscle tonus](/preview/png/3037110.png)
چکیده انگلیسی
Deletion of the monoamine oxidase (MAO)-A and MAO-B was detected in two male siblings and in their mother. The approximately 800-kb deletion, extending from about 43.0 MB to 43.8 MB, was detected by array comparative genomic hybridization analysis. The MAOA and MAOB genes were included in the deletion, but the adjacent Norrie disease gene, NDP, was not deleted. The boys had short stature, hypotonia, severe developmental delays, episodes of sudden loss of muscle tone, exiting behavior, lip-smacking and autistic features. The serotonin levels in their cerebrospinal fluid were extremely elevated. Another set of siblings with this deletion was reported previously. We propose recognition of MAOA/B deletion syndrome as a distinct disorder.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Brain and Development - Volume 36, Issue 1, January 2014, Pages 64–69
Journal: Brain and Development - Volume 36, Issue 1, January 2014, Pages 64–69
نویسندگان
Mari Saito, Takanori Yamagata, Ayumi Matsumoto, Yusuke Shiba, Masako Nagashima, Shuhei Taniguchi, Eriko Jimbo, Mariko Y Momoi,