Structural aberrations of the X chromosome in man

Abstract

Among 209 patients with Shereshevsky-Turner syndrome, 69 women with structural aberrations of X chromosome were detected: 46,X,i(Xq) - 11; 45,X/46,X,i(Xq) - 24; 45,X/46,X,r(X) - 14; 45,X/46,X,f(X or Y) - 10; 45,X/46,X,del(Xq) - 4; 45,X/46,X,del(Xp) - 2; 45,X/46,X,idic(X) - 2; 46,X,idic(X) - 1; and 46,X,t(X,2) - 1. All the patients with structural abnormalities of X chromosome were short in stature, but in no group was it as low on the average as in 45,X cases. Somatic signs were noticed in all structural changes of X, but they were less frequent and less pronounced. In some patients with r(X) and i(Xq), spontaneous menstrual bleeding and breast development was found. The structurally abnormal X chromosome appears to be functionally inactive, the phenotype of patients with structural rearrangements being close to the phenotype of patients with X monosomy. At the same time, the abnormal X might have certain effects in early embryogenesis which mitigated the further development of the Shereshevsky-Turner syndrome.

X chromosomal abnormalities in Indian adolescent girls

“…In the largest study that comprised 478 Belgian individuals by Kleczkowska et al [10], 52% TS were observed nonmosaic, 11% with 45,X/46,XX, and 28% with structural anomaly in X. The present result corresponds well with the respective findings of Belgian [10], Danish [11], and Russian [12] studies; however, a Chinese study of 150 patients detected no structural abnormalities in X [13].…”

Turner syndrome patients with a ring X chromosome

“…We have found 35 informative reports of ring X chromosomes in the literature (Palmer & Reichmann 1976, Davidenkova et al 1978, Lindsten & Tillinger 1962, Luers et al 1963, Ferguson-Smith et al 1964, Hustinx & Stoelinga 1964, Picciano et al 1972, Priest et al 1975, Hagemeijer et al 1976, Boyar et al 1977, Boczkowski et al 1978, Dallapiccola et al 1980 Tables 2 and 3 summarize the karyotype, somatic abnormalities, and degree of sexual development in these cases. Table 2 includes only those patients among the total 36 who were at or past the age of normal puberty at the time they were reported and for whom the degree of sexual development is mentioned.…”

“…It is most commonly associated with a 45,X karyotype, but numerous chromosomal variants of the syndrome have now been described. Although individuals with a ring X chromosome account for about 5% of published series of Turner syndrome patients (Palmer & Reichmann 1976, COCO & Bergada 1977, Davidenkova et al 1978, to our knowledge their clinical features and prognosis have never been separately evaluated and compared with those of the classic Turner syndrome patients.…”

X;Y translocation in a girl with short stature and some features of Turner's syndrome: cytogenetic and molecular studies.

“…The proband's normal X and marker Y chromosomes (arrowed) after QFH/AcD banding (A), distamycin A/Giemsa staining (B), RBA banding (C), and FPG banding (DElectrophoregram of PCR amplified products of (A) locus SRY, (B) DYZ3 (Ypll.1, centromere region), (C) DYZI (Yql2 middle), and (D) DYZ2 (Yql2, extreme tips) from the control male XY (3), from the proband's blood samples(2), and from the proband's gonadal tissue(1). Molecular weights are shown.…”