De Novo Duplication of Chromosome 9p in a Female Infant: Phenotype and Genotype Correlation

Trisomy 9p syndrome is the fourth most frequent chromosome aberration seen in infants. Duplication of the critical region 9p22p24 leads to mental retardation, psychomotor delay, and craniofacial and digital anomalies. We report a 2-year-old Ecuadorian girl with Trisomy 9p syndrome. Although her phen...

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Dettagli Bibliografici
Pubblicato in:J Pediatr Genet
Autori principali: Leone, Paola E., Pérez-Villa, Andy, Yumiceba, Verónica, Hernández, María Ángeles, García-Cárdenas, Jennyfer M., Armendáriz-Castillo, Isaac, Guerrero, Santiago, Guevara-Ramírez, Patricia, López-Cortés, Andrés, Zambrano, Ana Karina, García, Juan Luis, Hernández, Jesús María, Paz-y-Miño, César
Natura: Artigo
Lingua:Inglês
Pubblicazione: Georg Thieme Verlag KG 2020
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6976307/
https://ncbi.nlm.nih.gov/pubmed/31976149
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0039-1696970
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