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

Mark Micale; Bedford Embrey 4th; Katie Hubbell; Kelly Beaudry-Rogers; Amy Whitten

doi:10.1002/ccr3.982

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

Clin Case Rep. 2017 May 10;5(6):993-999. doi: 10.1002/ccr3.982. eCollection 2017 Jun.

Authors

Mark Micale^{1

2}, Bedford Embrey 4th¹, Katie Hubbell¹, Kelly Beaudry-Rogers³, Amy Whitten^{2

3}

Affiliations

¹ Department of Pathology and Laboratory Medicine Beaumont Health Royal Oak Michigan.
² Oakland University William Beaumont School of Medicine Rochester Michigan.
³ Department of Obstetrics and Gynecology Beaumont Health Royal Oak Michigan.

Abstract

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.

Keywords: Chromosome 7q duplication; chromosome microarray; incomplete penetrance; sonic hedgehog gene.

Publication types

Case Reports