Study on the relationship between cytogenetics and phenotypic effect in Turner's syndrome.
The cytogenetics and clinical stigmata in 5 cases of Turner's syndrome were studied. Three of them were non-mosaic 1(Xq) and two with partial monosome of a X chromosome short are (Xp21), whose DNA replication patterns of inactive X chromosome were analyzed by RBG technique. Results showed that differences between the replication patterns in cases of X chromosome deletion (Xp21) and normal females existed; that the behavior of abnormal X expressed nonrandom inactivation. It was suggested that the phenotype may be closely related with both X chromosome replication pattern and its inactivation behavior, which might be useful in genetic counselling.
Hu
X
X
Department of Paediatrics, Tongji Hospital, Tongji Medical University, Wuhan.
Zhu
B
B
Lin
H
H
Shu
D
D
Tao
D
D
Wang
M
M
D000293:Adolescent; D002648:Child; D002872:Chromosome Deletion; D004261:DNA Replication; D004303:Dosage Compensation, Genetic; D005260:Female; D006801:Humans; D010641:Phenotype; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome