A non-sex chromosome marker in a patient with an atypical Ullrich-Turner phenotype and mosaicism of 46,X,mar/46,XX.
The absence of a sex chromosome in conjunction with the presence of a marker chromosome generally implicates a sex chromosome origin for such marker chromosomes. These types of findings are frequently associated with Ullrich-Turner syndrome. We report a patient that presented with an atypical Ullrich-Turner phenotype and a cytogenetic mosaicism of 46,X,mar/46,XX. The marker chromosome was derived from chromosome 20, not from the X or Y chromosome. The patient's clinical features are described and discussed relative to the cytogenetic findings. This case further demonstrates the necessity of marker chromosome identification for accurate phenotype-karyotype correlation.
Gray
B A
BA
Division of Genetics, Department of Pediatrics, College of Medicine, University of Florida, Gainesville, FL 32610, USA. grayba@peds.ufl.edu
Bent-Williams
A
A
Wolff
D J
DJ
Zori
R T
RT
D002648:Child; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009030:Mosaicism; D014424:Turner Syndrome / Q000235:genetics* / Q000473:pathology; D014960:X Chromosome / Q000235:genetics*