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J Pediatr Genet 2013; 02(02): 103-107
DOI: 10.3233/PGE-13055
Case Report
Georg Thieme Verlag KG Stuttgart – New York

Terminal 6p deletion syndrome mimicking CHARGE syndrome: A case report

Gabrielle Freire
a   Department of Pediatrics, McGill University, Montreal, QC, Canada
,
Laura Russell
b   Department of Human Genetics, McGill University, Montreal, QC, Canada
,
Maryam Oskoui
a   Department of Pediatrics, McGill University, Montreal, QC, Canada
c   Department of Neurology & Neurosurgery, McGill University, Montreal, QC, Canada
› Author Affiliations
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Further Information

Publication History

09 January 2013

14 May 2013

Publication Date:
27 July 2015 (online)

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Abstract

The clinical features associated with terminal 6p deletion syndrome include anterior eye chamber defects, hearing loss, congenital heart anomalies and characteristic facies along with developmental delays. These features overlap with a number of other conditions including CHARGE syndrome. This acronym stands for non-random association of anomalies including coloboma of the eye, heart anomalies, choanal atresia, retardation of growth and development, genital hypoplasia and ear anomalies/deafness now known to be caused by CHD7 mutations. We describe a boy initially diagnosed with CHARGE syndrome who was subsequently found to have a terminal 6p deletion. Screening for 6p deletions in individuals presenting with atypical CHARGE syndrome may be warranted, with direct consequences for genetic counseling.

Keywords

CHARGE syndrome - 6p deletion syndrome - CHD7 mutation