The Hunter-McAlpine syndrome results from duplication 5q35-qter
2005
Hunter, A. | DuPont, B. | McLaughlin, M. | Hinton, L. | Baker, E. | Ades, L. | Haan, E. | Schwartz, C.
Article first published online: 22 DEC 2004
显示更多 [+] 显示较少 [-]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.
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