Maternally Inherited Partial Monosomy 9p (pter → p24.1) and Partial Trisomy 20p (pter → p12.1) Characterized by Microarray Comparative Genomic Hybridization

We report on a 17-year-old patient with midline defects, ocular hypertelorism, neuropsychomotor development delay, neonatal macrosomy, and dental anomalies. DNA copy number investigations using a Whole Genome TilePath array consisting, of 30K BAC/PAC clones showed a 6.36 Mb deletion in the 9p24.1–p2...

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Autors principals: Freitas, Érika L., Gribble, Susan M., Simioni, Milena, Vieira, Társis P., Silva-Grecco, Roseane L., Balarin, Marly A. S., Prigmore, Elena, Krepischi-Santos, Ana C., Rosenberg, Carla, Szuhai, Karoly, van Haeringen, Arie, Carter, Nigel P., Gil-da-Silva-Lopes, Vera Lúcia
Format: Artigo
Idioma:Inglês
Publicat: 2011
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3428835/
https://ncbi.nlm.nih.gov/pubmed/21948691
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.34168
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