The Hunter-McAlpine syndrome results from duplication 5q35-qter

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...

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Bibliographic Details
Published in:Clinical genetics 2005-01, Vol.67 (1), p.53-60
Main Authors: Hunter, AGW, Dupont, B, McLaughlin, M, Hinton, L, Baker, E, Adès, L, Haan, E, Schwartz, CE
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Adolescent
Adult
Aged
Biological and medical sciences
Body Height - genetics
Carbohydrates (enzymatic deficiencies). Glycogenosis
Child
Child, Preschool
Chromosome Aberrations
chromosome paint
Chromosomes, Human, Pair 5
cryptic translocation
Disease
Errors of metabolism
Face - abnormalities
Family Health
Female
Gene Duplication
General aspects. Genetic counseling
Genetic research
Humans
Hunter-McAlpine syndrome
Intellectual Disability - genetics
Male
Medical genetics
Medical sciences
Metabolic diseases
Microcephaly - genetics
Middle Aged
Pedigree
subtelomeric probes
Syndrome
Translocation, Genetic
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Summary: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 Adés 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.
ISSN:0009-9163
1399-0004
DOI:10.1111/j.1399-0004.2005.00378.x