Cell line segregation in a 45,X/46,XY mosaic child with asymmetric leg growth.

摘要: Clinical evaluation of a 13 1/2-year-old male revealed 4.4-cm leg length discrepancy and small penis with normal endocrine evaluation. Cytogenetic analysis peripheral blood lymphocytes skin fibroblasts derived from the back showed 45,X/46,XY mosaicism similar percentages 45,X cells, 36% 30% respectively. However, two separate fibroblast cultures thigh calf short (right) significant lack Y-bearing cells 100% 80% 45,X, In contrast, biopsies (left) both 46,XY. Similar evidence for differences in left versus right was obtained using densitometric scanning dot blots following DNA hybridization Y-specific probe at DYZ4 locus. Asymmetric limb growth cases X/XY lymphocyte warrants further cytogenetic investigation to substantiate possible genotype-phenotype correlations which may help uncover fundamental deficiency Turner syndrome.