Prenatal identification of two discontinuous maternally inherited chromosome 7q36.3 microduplications totaling 507 kb including the sonic hedgehog gene in a fetus with multiple congenital anomalies

Duplications of the SHH gene, an important developmental gene, are rare. Disruption of this gene produces a variable phenotype in humans from major anomalies to isolated facial defects. This is the first reported case of a maternally inherited 507 kb discontinuous chromosome 7q36.3 microduplication...

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Detalles Bibliográficos
Autores principales: Micale, Mark, Embrey, Bedford, Hubbell, Katie, Beaudry‐Rogers, Kelly, Whitten, Amy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5457993/
https://www.ncbi.nlm.nih.gov/pubmed/28588853
http://dx.doi.org/10.1002/ccr3.982
Descripción
Sumario:Duplications of the SHH gene, an important developmental gene, are rare. Disruption of this gene produces a variable phenotype in humans from major anomalies to isolated facial defects. This is the first reported case of a maternally inherited 507 kb discontinuous chromosome 7q36.3 microduplication resulting in duplication of SHH and nearby enhancer sequences.

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