| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5906789 | Gene | 2013 | 5 Pages |
Abstract
⺠A boy with de novo apparently balanced exceptional complex chromosomal rearrangement. ⺠His karyotype was found to be: 46,XY,der(5)t(5;7)(p15.1;7q34),t(5;8)(q13.1;8q24.1)dn. ⺠Microdeletion encompassing the 887.69 kb at 5q12.1-5q12.3 was detected by array-CGH. ⺠This deleted region includes the HTR1A and RNF180 genes. ⺠Deletions of HTR1A and RNF180 leads to epileptic seizures and mental retardation.
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Authors
Zafer Cetin, Sezin Yakut, Ozden Altiok Clark, Ercan Mihci, Sibel Berker, Guven Luleci,