A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency

BACKGROUND: Rearrangements involving the short arm of chromosome 18 have been extensively described. Here we report a microduplication of 320.5–431.5 Kb at 18p11.31-p11.23 in a 10 year-old boy. CASE PRESENTATION: In a 10 year-old boy with moderate psychomotor delay, hypoplasia of the cerebellar verm...

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Detalles Bibliográficos
Autores principales: Giordano, Mara, Muratore, Valentina, Babu, Deepak, Meazza, Cristina, Bozzola, Mauro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5135744/
https://www.ncbi.nlm.nih.gov/pubmed/27980677
http://dx.doi.org/10.1186/s13039-016-0298-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5135744/
https://www.ncbi.nlm.nih.gov/pubmed/27980677
http://dx.doi.org/10.1186/s13039-016-0298-9

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