A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability

We present a 20-year-old female patient from Indonesia with intellectual disability (ID), proportionate short stature, motor delay, feeding problems, microcephaly, facial dysmorphism, and precocious puberty who was previously screened normal for conventional karyotyping, fragile X testing, and subte...

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Detalles Bibliográficos
Autores principales: Zada, Almira, Mundhofir, Farmaditya E. P., Pfundt, Rolph, Leijsten, Nico, Nillesen, Willy, Faradz, Sultana M. H., de Leeuw, Nicole
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3985205/
https://www.ncbi.nlm.nih.gov/pubmed/24800088
http://dx.doi.org/10.1155/2014/530134

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3985205/
https://www.ncbi.nlm.nih.gov/pubmed/24800088
http://dx.doi.org/10.1155/2014/530134

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