Estudio citogenético de 38 pacientes con síndrome de turner

Abstract

Among 36 patients with Turner syndrome diagnosis, 20 had the classical karyotype 45, XO and one had 45, X O/46, X X . The remainder 17 patients had different structural aberrations: ten had one or two lines with long arm isochrornosomes, eight of which were 45,XO mosaicism; one patient had 46,X.del (Xp) or 46, X, tel (Xq) because of total lack of the short arm; three had different percentages of monosomic lines and X rings: 45, X0/46, X, r (X); two had structural aberrations of the Y chromosome: 45, X0/46, and  45,XO/46, X, idic (Yq), and one had 45,X0/46,X,f(X). These patients were referred for clinical and cytogenetic evaluation to the Genetic Group of Colombian National Institute of Health during  the 1.977-1983 period. Observations about the possible origin of chromosomal abnormalities, parental ages, patient's ages, motive of consultation and clinical findings are discussed.