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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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:J Pediatr Genet
Päätekijät: Bouhjar, Inesse Ben Abdallah, Gmidène, Abir, Soyah, Najla, Hanene, Hannachi, Mougou, Soumaya, Elghezal, Hatem, Saad, Ali
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Georg Thieme Verlag KG 2012
Aiheet:
Linkit: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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