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Concurrence of fragile X syndrome and 47, XYY in an individual with a Prader‐Willi‐like phenotype
Author(s) -
Stalker Heather J.,
Keller Kory L.,
Gray Brian A.,
Zori Roberto T.
Publication year - 2002
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.10001
Subject(s) - concurrence , phenotype , fragile x syndrome , genetics , fragile x , psychology , biology , gene , physics , quantum mechanics , quantum entanglement , quantum
Abstract We report on a 34‐year‐old developmentally disabled man referred to our clinic for evaluation of possible Prader‐Willi syndrome on the basis of obesity and voracious appetite. Cytogenetic and molecular analysis revealed a 47, XYY karyotype and the presence of a trinucleotide repeat expansion resulting in fragile X syndrome. To our knowledge, this is the first report of concurrence of XYY and fragile X syndrome in the medical literature. Review of sex chromosome abnormalities associated with fragile X syndrome and phenotypic considerations are presented. © 2003 Wiley‐Liss, Inc.