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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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Détails bibliographiques
Publié dans:J Pediatr Genet
Auteurs principaux: Bouhjar, Inesse Ben Abdallah, Gmidène, Abir, Soyah, Najla, Hanene, Hannachi, Mougou, Soumaya, Elghezal, Hatem, Saad, Ali
Format: Artigo
Langue:Inglês
Publié: Georg Thieme Verlag KG 2012
Sujets:
Accès en ligne: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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