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

Article type: Other

Authors: Freire, Gabrielle | Russell, Laura | Oskoui, Maryam; ;

Affiliations: Department of Pediatrics, McGill University, Montreal, QC, Canada | Department of Human Genetics, McGill University, Montreal, QC, Canada | Department of Neurology & Neurosurgery, McGill University, Montreal, QC, Canada

Note: [] Corresponding author: Maryam Oskoui, Departments of Pediatrics and Neurology, McGill University, Montreal Children’s Hospital, 2300 Tupper street, A-512, Montreal, QC, H3H 1P3, Canada. Tel.: +1 514 412 4446; Fax: +1 514 412 4373; E-mail: [email protected].

Keywords: CHARGE syndrome, 6p deletion syndrome, CHD7 mutation

DOI: 10.3233/PGE-13055

Journal: Journal of Pediatric Genetics, vol. 2, no. 2, pp. 103-107, 2013

Received 9 January 2013
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Revision received 15 April 2013
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Accepted 14 May 2013
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Published: 2013
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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.