Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: Review and gene assignment to the interface of band 3q22.3 and 3q23
- 1 December 1993
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 47 (8), 1147-1150
- https://doi.org/10.1002/ajmg.1320470802
Abstract
We report on a child with blepharophimosis, ptosis, and epicanthus inversus (BPES), developmental delay and an interstitial deletion of band q22 of chromosome 3. A review of chromosome 3q anomalies associated with eye abnormalities, specifically blepharophimosis and ptosis, strongly suggests that a locus for eyelid development is present at the interface of bands 3q22.3 and 3q23.Keywords
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