Genetic counseling for women with 45,X/46,XX mosaicism: Towards more personalized management
Snyder, E.A., San Roman, A.K., Piña-Aguilar, R.E., Stevens, M.A., McNamara, E.M., Hayes, F.J., Levitsky, L.L., Lin, A.E. (2021) Eur. J. Med. Genet. 64(3): 104140.
Abstract: Despite numerous clinical series, consistent karyotype-phenotype correlations for Turner syndrome have not been established, although a lower level of 45,X is generally thought to be associated with a milder phenotype. This limits personalized counseling for women with 45,X/46,XX mosaicism. To better understand the phenotypic spectrum associated with various levels of 45,X/46,XX mosaicism, we compared patients evaluated in the Massachusetts General Hospital Turner Syndrome Clinic to determine if cardiac, renal, and thyroid abnormalities correlated with the percentage of 45,X cells present in a peripheral blood karyotype.
