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Article

Ring 18 molecular assessment and clinical consequences.

American journal of medical genetics. Part A - 1 Jan 2015

Carter Erika, Heard Patricia, Hasi Minire, Soileau Bridgette, Sebold Courtney, Hale Daniel E, Cody Jannine D

Abstract excerpt

Ring chromosome 18 is a rare condition which has predominantly been described by case reports and small case series. We assessed a cohort of 30 individuals with ring 18 using both microarray comparative genomic hybridization (aCGH) and fluorescence in situ hybridization (FISH). We determined that each participant had a unique combination of hemizygosity for the p and q arms. Four ring chromosomes had no...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25339348
DOI: 10.1002/ajmg.a.36822

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