The Hunter–McAlpine syndrome results from duplication 5q35–qter
2004; Wiley; Volume: 67; Issue: 1 Linguagem: Inglês
10.1111/j.1399-0004.2005.00378.x
ISSN1399-0004
AutoresAGW Hunter, Barbara R. DuPont, Margaret E. McLaughlin, Lyn Hinton, Elizabeth Baker, Lesley C. Adès, E Haan, CE Schwartz,
Tópico(s)Genomics and Chromatin Dynamics
ResumoIn 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.
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