Cell line segregation in a 45,X/46,XY mosaic child with asymmetric leg growth.
Publication/Presentation Date
9-1-1991
Abstract
Clinical evaluation of a 13 1/2-year-old male revealed a 4.4-cm leg length discrepancy and a small penis with a normal endocrine evaluation. Cytogenetic analysis of peripheral blood lymphocytes and skin fibroblasts derived from the back showed 45,X/46,XY mosaicism with similar percentages of 45,X cells, 36% and 30% respectively. However, two separate skin fibroblast cultures derived from the thigh and calf of the short (right) leg showed significant lack of Y-bearing cells with 100% and 80% 45,X, respectively. In contrast, skin biopsies of the thigh and calf of the normal (left) leg both showed 100% 46,XY. Similar evidence for differences in the percentages of Y-bearing cells in the left versus right leg fibroblast cultures was obtained using densitometric scanning of dot blots following DNA hybridization with a Y-specific probe at the DYZ4 locus. Asymmetric limb growth in cases of X/XY lymphocyte mosaicism warrants further cytogenetic investigation to substantiate possible genotype-phenotype correlations which may help uncover the fundamental growth deficiency in Turner syndrome.
Volume
40
Issue
3
First Page
237
Last Page
241
ISSN
0009-9163
Published In/Presented At
Papenhausen, P. R., Mueller, O. T., Bercu, B., Salazar, J., & Tedesco, T. A. (1991). Cell line segregation in a 45,X/46,XY mosaic child with asymmetric leg growth. Clinical genetics, 40(3), 237–241. https://doi.org/10.1111/j.1399-0004.1991.tb03084.x
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
1773540
Department(s)
Department of Pediatrics
Document Type
Article