Uniparental Disomy As a Mechanism for Human Genetic Disease

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1988 Feb 1

PMID 2893543

Citations 136

Authors

J E Spence

R G Perciaccante

G M Greig

H F Willard

D H Ledbetter

J F Hejtmancik

M S Pollack

W E OBrien

A L Beaudet

Affiliations

Soon will be listed here.

Abstract

A female with cystic fibrosis and short stature was investigated for molecular or cytogenetic abnormalities that might explain the combined phenotype. Analysis with polymorphic DNA markers indicated that the father did not contribute alleles to the propositus for markers near the CF locus or for centromeric markers on chromosome 7. High-resolution cytogenetic analysis was normal, and the result could not be explained on the basis of nonpaternity or a submicroscopic deletion. All of the data indicate that the propositus inherited two identical copies of maternal sequences for much or all of chromosome 7. The occurrence of uniparental disomy could be explained by models postulating postfertilization error, gamete complementation, monosomic conception with subsequent chromosome gain, or trisomic conception followed by chromosome loss. Uniparental disomy in an individual with a normal chromosome analysis is a novel mechanism for the occurrence of human genetic disease.

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