Premium
The Hunter–McAlpine syndrome results from duplication 5q35–qter
Author(s) -
Hunter AGW,
Dupont B,
McLaughlin M,
Hinton L,
Baker E,
Adès L,
Haan E,
Schwartz CE
Publication year - 2005
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2005.00378.x
Subject(s) - gene duplication , chromosomal translocation , genetics , chromosome , biology , medicine , gene
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.