کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
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3053116 | 1186143 | 2007 | 4 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: Chromosomal abnormality at 6p25.1–25.3 identifies a susceptibility locus for hypothalamic hamartoma associated with epilepsy Chromosomal abnormality at 6p25.1–25.3 identifies a susceptibility locus for hypothalamic hamartoma associated with epilepsy](/preview/png/3053116.png)
SummaryThe pathogenesis of hypothalamic hamartoma (HH) associated with epilepsy is unknown. We have identified an individual with HH and refractory epilepsy exhibiting subtle dysmorphic features. High-resolution karyotype identified a duplication of the terminal end of 6p (6p25.1–25.3), confirmed by fluorescent in situ-hybridization (FISH). Copy number analysis with high-density (250K) single nucleotide polymorphism (SNP) genotyping microarrays characterized the abnormality as a series of amplified regions between 1.4 Mb and 10.2 Mb, with a small tandem deletion from 8.8 Mb to 9.7 Mb. There are 38 RefSeq genes within the duplicated regions, and no known coding sequences within the deletion. This unique patient helps identify 6p25.1–25.3 as a possible susceptibility locus for sporadic HH.
Journal: Epilepsy Research - Volume 75, Issue 1, June 2007, Pages 70–73