Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation

BACKGROUND: Microdeletion of 1q43q44 causes a syndrome characterized by intellectual disability (ID), speech delay, seizures, microcephaly (MIC), corpus callosum abnormalities (CCA) and characteristic facial features. Duplication of 4q is presented with minor to severe ID, MIC and facial dysmorphism...

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Detalles Bibliográficos
Autores principales: Mohamed, A. M., El-Bassyouni, H. T., El-Gerzawy, A. M., Hammad, S. A., Helmy, N. A., Kamel, A. K., Ismail, S. I., Issa, M. Y., Eid, O., Zaki, M. S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6219057/
https://www.ncbi.nlm.nih.gov/pubmed/30410579
http://dx.doi.org/10.1186/s13039-018-0406-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6219057/
https://www.ncbi.nlm.nih.gov/pubmed/30410579
http://dx.doi.org/10.1186/s13039-018-0406-0

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