2q31.1 microdeletion syndrome: redefining the associated clinical phenotype

201067 citationsJournal Articlegreen Open Access

Authors

Boyan Dimitrov · KU Leuven

Irina Balikova

Thomy de Ravel

Hilde Van Esch

Maryse De Smedt · GZA Ziekenhuizen Campus Sint-Augustinus

Emiel Baten · AZ Sint-Lucas

Abstract

These results reinforce the hypothesis that the variable skeletal phenotype in 2q31 deletion patients is a result of hemizygosity for the HOXD genes and that the 2q31.1 microdeletion syndrome is a well defined and clinically recognisable phenotype.

Topics & Keywords

Congenital limb and hand anomalies Genomic variations and chromosomal abnormalities Prenatal Screening and Diagnostics

Publication Details

Published in: Journal of Medical Genetics

Volume 48, Issue 2, pp. 98-104

DOI: 10.1136/jmg.2010.079491

Field-Weighted Citation Impact: 1.99

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2q31.1 microdeletion syndrome: redefining the associated clinical phenotype

Authors

Abstract

Topics & Keywords

Publication Details