| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5906591 | Gene | 2013 | 7 Pages |
Abstract
⺠We report a partial trisomy 11q syndrome. ⺠Micro-array showed a partial trisomy 11q of 33,4 Mb and a partial monosomy 7p of 140 Kb. ⺠We precise genes contained in the deleted and duplicated regions. ⺠ID, Epilepsy and CIH are the spectrum of anomalies in trisomy 11q syndrome. ⺠Genotype-phenotype correlation provides genetic counseling to the parents.
Keywords
IL33CASP1IL1bOMIMArray-CGHCGHFAM20CIL18GRIK4DRD2deoxyuridine triphosphateNCAM1CIHneural cell adhesion molecule 1congenital inguinal herniaPhytohemagglutininRobo4PHAmega baseTNNT1DNAdUTPBACArray comparative genomic hybridizationdeoxyribonucleic acidInterleukin 18interleukin 33EpilepsyThy-1Fishintellectual disabilityOnline Mendelian Inheritance in ManKilo basebacterial artificial chromosomedopamine receptor D2
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Authors
Inesse Ben-Abdallah-Bouhjar, Soumya Mougou-Zerelli, Hanene Hannachi, Hela Ben-Khelifa, Najla Soyah, Audrey Labalme, Damien Sanlaville, Hatem Elghezal, Ali Saad,