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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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