[Rare chromosomal aberrations in the Shereshevskiĭ-Turner syndrome].
Among 106 females with the Turner syndrome phenotype, two displayed rare chromosomal anomalies. In one patient, in addition to X-chromosome monosomy, among cultured lymphocytes cells with two isochromosomes made by long arms of X-chromosome were detected. Their frequency was 25%, and this value was the same in cultures obtained repeatedly after 3 and 5 months, which may suggest a certain stability of this clone. The other patient had a combination of two aberrations never reported before: the combination of isochromosome Xq and the Robertsonian translocation 13; 14. By their phenotype, these two women did not change from other patients with isochromosome Xq.
D000293:Adolescent; D000328:Adult; D002869:Chromosome Aberrations; D005260:Female; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure; D009006:Monosomy; D010641:Phenotype; D014178:Translocation, Genetic; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome / Q000648:ultrastructure*
Redkie khromosomnye aberratsii pri sindrome Shereshevskogo-Ternera.