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Trisomy and tetrasomy 15q11-q13 diagnosed by molecular cytogenetic analysis in two patients with mental retardation

In this study, we report two patients with the supernumerary marker chromosome (15)s. The first case is an 8.5-year-old girl with an inv dup (15) syndrome, mental retardation and dysmorphic features. The second case is a 13-year-old boy with a ring chromosome 15, who was referred to the Laboratory o...

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書目詳細資料
發表在:J Pediatr Genet
Main Authors: Bouhjar, Inesse Ben Abdallah, Gmidène, Abir, Soyah, Najla, Hanene, Hannachi, Mougou, Soumaya, Elghezal, Hatem, Saad, Ali
格式: Artigo
語言:Inglês
出版: Georg Thieme Verlag KG 2012
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC5020922/
https://ncbi.nlm.nih.gov/pubmed/27625804
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/PGE-2012-012
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