Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1

2006127 citationsletterbronze Open Access

Authors

Evica Rajcan‐Separovic · University of British Columbia

Chansonette Harvard · University of British Columbia

X Liu · Queen's University

Barbara McGillivray · University of British Columbia

Judith G. Hall · University of British Columbia

Ying Qiao · University of British Columbia

Jane Hurlburt

Abstract

The common constellation of features found in the two affected subjects indicates that they have a newly recognised microdeletion syndrome involving haploinsufficiency of one or more genes deleted within at least a 4.5-Mb segment of the 2p15-16.1 region.

Topics & Keywords

Genomic variations and chromosomal abnormalities Congenital heart defects research Congenital Ear and Nasal Anomalies

Publication Details

Published in: Journal of Medical Genetics

Volume 44, Issue 4, pp. 269-276

DOI: 10.1136/jmg.2006.045013

Field-Weighted Citation Impact: 7.17

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Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1

Authors

Abstract

Topics & Keywords

Publication Details