Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/17328
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Type: Journal article
Title: The Hunter-McAlpine syndrome results from duplication 5q35-qter
Author: Hunter, A.
DuPont, B.
McLaughlin, M.
Hinton, L.
Baker, E.
Ades, L.
Haan, E.
Schwartz, C.
Citation: Clinical Genetics: an international journal of genetics and molecular medicine, 2005; 67(1):53-60
Publisher: Blackwell Munksgaard
Issue Date: 2005
ISSN: 0009-9163
1399-0004
Abstract: In 1977 Hunter et al. J Med Genet 1977: 14 (6): 430-437, reported a family with six affected members, connected over three generations through unaffected individuals. Subsequently, several other patients purported to have the condition were reported. The condition became known as the Hunter-McAlpine syndrome, and there was debate as to whether or not it was identical to the Ruvalcaba syndrome or a type of tricho-rhino-phalangeal syndrome. In this article we confirm that the original family and a patient reported by Ades et al. Clin Dysmorphol 1993: 2 (2): 123-130 have cryptic translocations resulting in duplication of 5q35-qter. Similarities are noted between our patients and others in the literature with duplication of this chromosome segment.
Keywords: Face
Chromosomes, Human, Pair 5
Humans
Microcephaly
Abnormalities, Multiple
Chromosome Aberrations
Translocation, Genetic
Syndrome
Body Height
Pedigree
Gene Duplication
Adolescent
Adult
Aged
Middle Aged
Child
Child, Preschool
Family Health
Female
Male
Intellectual Disability
Description: Article first published online: 22 DEC 2004
Rights: Copyright © 2005 John Wiley & Sons, Inc. All Rights Reserved.
DOI: 10.1111/j.1399-0004.2005.00378.x
Published version: http://dx.doi.org/10.1111/j.1399-0004.2005.00378.x
Appears in Collections:Aurora harvest 6
Environment Institute publications
Paediatrics publications

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