The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability

BACKGROUND: 1q21 microdeletion syndrome is a rare contiguous gene deletion disorder with de novo or autosomal dominant inheritance patterns and its phenotypic features include intellectual disability, distinctive facial dysmorphism, microcephaly, cardiac abnormalities, and cataracts. MECP2 duplicati...

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Detalles Bibliográficos
Autores principales: Ha, Kyungsoo, Shen, Yiping, Graves, Tyler, Kim, Cheol-Hee, Kim, Hyung-Goo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5041540/
https://www.ncbi.nlm.nih.gov/pubmed/27708714
http://dx.doi.org/10.1186/s13039-016-0286-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5041540/
https://www.ncbi.nlm.nih.gov/pubmed/27708714
http://dx.doi.org/10.1186/s13039-016-0286-0

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