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Biomedical subjects

M V Mashkova

Publications and source records attributed to M V Mashkova.

7 recordsLinked to original sources
PubMed1978

Structural aberrations of the X chromosome in man.

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.

Chromosome Aberrations↗
PubMed1977

[Double autosomal aberration: trisomy 21 and familial reciprocal translocation t(10;12)(p14;q21)].

A child with the Down syndrome revealed besides a regular trisomy 21, an enlargment of the short arm of chromosome 10, and the deletion of the long arm of chromosome 12. The proband's mother, who was phenothypically normal woman, appeared to be a carrier of the reciprocal translocation, her karyotype being: 46, XX, rep (10;12) (10qter leads to leads to 10p14; 12q21 leads to 12qter; 12pter leads to 12q21 : 10p14 leads to 10pter). Hence, the proband had double chromosomal aberration 47, XX, +21, rcp (10; 12) (10qter leads to 10p14 : 12q21 leads to leads to 12qter; 12pter leads to 12q21 : 10p14 leads to 10pter) mat. There is no reason to relate hard manifistation of the Down syndrome with the detected translocation. The influence of the mathernal non-devision in the meiosis and the rise of the trisomy 21 is discussed. In the following pregnancies it is advisable to amniocentesis.

Adult↗
PubMed1977

[Human isodicentric X-chromosomes].

The large submetacentric abnormal late replicating X-chromosomes were found in three patients under karyological studies of 168 patients with Turner's syndrome. G- and C-banding revealed that abnormal chromosomes are three variants of isodicentric chromosomes resulting from the junction of the short arms of two X-chromosomes. The patients' karyotypes are respectively: 45,X/46,X,dic (X)(qter leads to p22: :p22 leads to qter); 46X,dic(X)(qter leads to p21: :p21 leads to qter); 46,X/46,X,dic(X)(qter leads to p11: :p11 leads to qter). All the three patients had different size deficiencies of the short arm of the X-chromosome. Partial X-monosomy caused the appearance of features of the Turner syndrome, which was less expressed in our patients compared to those with the entire X-monosomy.

Female↗
PubMed1976

[Identification of several chromosome aberrations in man by the fluorescent method using quinacrine yprite].

The applications of the fluorescent staining of chromosomes with quinacrine mustard allowed to identify a dicentric Y-chromosome in two patients with defected external gynaetalies: a boy of 15 years old and a girl of 2 years old. Both the patients had mosaicism of sex chromosomes: 45, x/46, x dic (Y). The dicentric Y-chromosome, resembling chromosome, 16, had bright luminescence of the thelomeric regions characteristic of the normal Y-chromosome. Besides, a balanced autosomic translocation t (1, 14) (q 31, q 3) was found in the girl identified also with quinacrine mustard fluorescent staining.

Adolescent↗
PubMed1976

[Familial X-autosomal translocation t (X, 2)].

A loss of part of the short arm of the X-chromosome and a partial trisomy of chromosome 2 were detected in a girl with the Shereshevsky--Turner syndrome; her karyotype was 46, Xt (X,2) (Xqter leads to Xp11 : : 2q36 leads to 2q ter). The patient's mother had a balanced X-autosomal translocation 46, X,t, (X,2) (Xq ter leads to Xp11 : : 2q36 leads to 2q ter; 2p ter leads to 2q36 : : Xp11 leads to Xp ter). The daughter's abnormal X-chromosome was a late labelling one, while her mother had the late label in the normal X-chromosome.

Adolescent↗