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Article

Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication.

American journal of medical genetics. Part A - 1 Apr 2011

Argiropoulos Bob, Carter Melissa, Brierley Kathy, Hare Heather, Bouchard Amélie, Al-Hertani Walla, Ryan Shannon R, Reid Judith, Basik Mark, McGowan-Jordan Jean, Graham Gail E

Abstract excerpt

We report on a patient with severe intellectual disability, microcephaly, short stature, and dysmorphic features who, based on standard karyotyping, has two cytogenetic abnormalities: an apparently balanced paracentric inversion of chromosome 7, inv(7)(q31.2q36), and a small supernumerary ring chromosome derived entirely of material from chromosome 19. While the inversion was detected in all cells, mosaicism was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21416596
DOI: 10.1002/ajmg.a.33918

Genes

SHH

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