Apparent deletion of X chromosome in a prepuberal girl.

Abstract

Apparent deletion of the short arms of one X chromosome associated with clinically detectable abnormalities, has been reported (Jacobs, Harnden,

Fluorescence and Autoradiographic Studies in Patients with Turner's Syndrome and 46,XXp-- and 46,XXq-- Karyotypes

“…In all the other informative cells, the abnormal X chromosome was inactive. This is a deviation from the random inactivation of X chromosomes (Lyon, 1961), but is in accordance with the findings in other cases of X-chromosome deletion (Fraccaro and Lindsten, 1964;Atkins, Santesson, and Voss, 1965;Steinberger et al, 1966;Giannelli, 1970;Kikuchi and Oishi, 1970 different from the behaviour of abnormal X chromosomes in X-autosomal translocations (Allderdice et al, 1971;Buckton et al, 1971;Mikkelsen and Dahl, 1973).…”

Xq- Turner's syndrome: reconsideration of hypothesis that Xp- causes somatic features in Turner's syndrome.

“…* Short stature=less than 152-4 cm. S Atkins, Santesson, and Voss (1965); Jacobs et al (1961); Lejeune et al (1966);Steinberger et al (1966); Tveterls (1965).…”

Somatic stigmata of Turner's syndrome in a patient with 46,XXq-.

“…In reviewing the positive features reported in cases of Xp -, the data may be summarized as follows: short stature (5/5); shield-chest (1/5); webbed neck (0/5); lymphoedema (0/5); short 4th metacarpals (1/5); hypoplastic nails (0/5); pigmented naevi (0/5); congenital heart disease (0/5); sexual infantilism (5/5); and severe mental defect (0/5) (Atkins, Santesson, and Voss, 1965;Jacobs et al, 1961;Lejeune et al, 1966;Steinberger et al, 1966;Tveteras, 1968).…”

“…In our studies, a late-replicating pattern was evident for the abnormal X chromosome in all of the cells suitable for analysis. Tritiated thymidine studies have also indicated late labelling ofthe abnormal X in cases of 46,XXp - (Atkins et al, 1965;Steinberger et al, 1966), 46,XXr (Rowley et al, 1964), and 46,XXqi (Jacobs et al, 1961;Giannelli, 1963;Muldal et al, 1963 X chromosome may best be explained by lack of viability of those cells in which the normal X chromosome is inactivated and the abnormal X chromosome remains active. The high incidence of XO found in studies of fetuses obtained from spontaneous abortion may indicate large-scale cell death due to non-viability of the cells in which the normal X has been inactivated (Bowen and Lee, 1969;Larson and Titus, 1970).…”