Article
Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting.
Cytogenetic and genome research - 1 Jan 2008
Goobie S, Knijnenburg J, Fitzpatrick D, Sharkey F H, Lionel A C, Marshall C R, Azam T, Shago M, Chong K, Mendoza-Londono R, den Hollander N S, Ruivenkamp C, Maher E, Tanke H J, Szuhai K, Wintle R F, Scherer S W
Abstract excerpt
Microdeletions of 3q29 have previously been reported, but the postulated reciprocal microduplication has only recently been observed. Here, cases from four families, two ascertained in Toronto (Canada) and one each from Edinburgh (UK) and Leiden (Netherlands), carrying microduplications of 3q29 are presented. These families have been characterized by cytogenetic and molecular techniques, and all individuals have...
Topics
- Chromosomes, Human
- Female
- Gene Dosage
- Gene Duplication
- Genetic Predisposition to Disease
- Guidelines as Topic
- Humans
- Male