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J Pediatr Genet 2014; 03(01): 041-044
DOI: 10.3233/PGE-14082
Case Report
Georg Thieme Verlag KG Stuttgart – New York

Further phenotypic expansion of 15q11.2 BP1-BP2 microdeletion (Burnside-Butler) syndrome

Adria M. Jerkovich
a   Department of Pediatrics, University of Kansas Medical Center, Kansas City, KS, USA
,
Merlin G. Butler
b   Department of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, Kansas City, KS, USA
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Publication History

10 April 2014

20 May 2014

Publication Date:
27 July 2015 (online)

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Abstract

We report a 10-year-old Caucasian male identified with copy number variation detected by microarray analysis including a maternally inherited 15q11.2 microdeletion involving 4 genes, paternally inherited 13q12.2 microdeletion with 10 genes, and a de novo 2q14.3 duplication involving four genes. He had a history of speech delay, cognitive deficits, attention deficit hyperactivity disorder and a posterior lenticonus cataract removed at 5 yr of age. The genes on chromosomes 2 and 13 are not known to be involved with cataract formation, which lends further support for a role of the 15q11.2 region and additional evidence for phenotypic expansion of the 15q11.2 BP1-BP2 microdeletion (termed Burnside-Butler) syndrome.

Keywords

Microarray analysis - motor and language delay - congenital cataracts - dysmorphic features