A new mosaic der(18)t(1;18)(q32.1;q21.3) with developmental delay and facial dysmorphism

We report the case of a 22-month-old boy with a new mosaic partial unbalanced translocation of 1q and 18q. The patient was referred to our Pediatric Department for developmental delay. He showed mild facial dysmorphism, physical growth retardation, a hearing disability, and had a history of patent d...

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Detalhes bibliográficos
Publicado no:Korean J Pediatr
Main Authors: Choi, Young-Jin, Shin, Eunsim, Jo, Tae Sik, Moon, Jin-Hwa, Lee, Se-Min, Kim, Joo-Hwa, Oh, Jae-Won, Kim, Chang-Ryul, Seol, In Joon
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Pediatric Society 2016
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4781737/
https://ncbi.nlm.nih.gov/pubmed/26958068
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2016.59.2.91
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