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Specific behavioural phenotype and secondary cognitive decline as a result of an 8.6 Mb deletion of 2q32.2q33.1

Chromosomal abnormalities involving 2q32q33 deletions are very rare and present with a specific phenotype. This case report describes a 37-year-old female patient with 2q32q33 microdeletion syndrome presenting with the characteristic features, but with the addition of secondary cognitive decline. Mo...

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Detalles Bibliográficos
Autores principales: Gregoric Kumperscak, Hojka, Krgovic, Danijela, Vokac, Nadja Kokalj
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5580054/
https://www.ncbi.nlm.nih.gov/pubmed/26811410
http://dx.doi.org/10.1177/0300060515595651