Article
Male with mosaicism for supernumerary ring X chromosome: analysis of phenotype and characterization of genotype using array comparative genome hybridization.
The Journal of craniofacial surgery - 1 Sept 2010
Baker Peter R, Tsai Anne Chun-Hui, Springer Michelle, Swisshelm Karen, March Jennifer, Brown Kathleen, Bellus Gary
Abstract excerpt
Supernumerary, derivative, and ring X chromosomes are relatively common in Turner syndrome females but have been reported rarely in males. To date, less than 10 cases have been published, of which only 2 have been partially characterized in defining the breakpoints and genetic content of the derivative X chromosome. We describe a male with mosaicism for a supernumerary X chromosome (46,XY/47,XY, r(X)) who has...
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