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.
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ABSTRACT:
SUBMITTER: Micale M
PROVIDER: S-EPMC5457993 | biostudies-literature | 2017 Jun
REPOSITORIES: biostudies-literature
Publications
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.
Micale Mark M Embrey Bedford B Hubbell Katie K Beaudry-Rogers Kelly K Whitten Amy A
Clinical case reports 20170510 6
Duplications of the <i>SHH</i> 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 <i>SHH</i> and nearby enhancer sequences. ...[more]
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