A case of long arm deletion of the X-chromosome in a patient with Turner syndrome.
The work presents the clinical and cytogenetic findings in a 16 year-old female-patient with Turnerian phenotype and 46 XX, del(X)(q 13 leads to q ter) caryotype. The authors discuss the difficulties of correlating the caryotype to the phenotype in X chromosome structural aberation cases.
D000293:Adolescent; D005260:Female; D006801:Humans; D012729:Sex Chromosome Aberrations; D014424:Turner Syndrome; D014960:X Chromosome