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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Dettagli Bibliografici
Pubblicato in:Mol Cytogenet
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2018
Soggetti:
Case Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6219057/
https://ncbi.nlm.nih.gov/pubmed/30410579
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-018-0406-0
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