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  • Title: A Turner-like phenotype in a girl with an isodicentric fluorescent Y chromosome mosaicism.
    Author: Bergendi E, Plöchl E, Vlasak I, Rittinger O, Muss W.
    Journal: Klin Padiatr; 1997; 209(3):133-6. PubMed ID: 9183775.
    Abstract:
    BACKGROUND: The Ullrich-Turner syndrome (UTS) demonstrates a great clinical variability according to the cytogenetic and molecular genetic findings in various tissues. In few cases the karyotype reveals the presence of an additional Y-bearing cell line which is referred to as a borderline case of mixed gonadal dysgenesis. In this condition, Turner specific stigmata occur in about half of the cases. PATIENT: A 10 year-old girl with short stature and only a few other signs of Turner syndrome and hypertrophic clitoris revealed 45,X/46,X,idic(Yq) mosaicism with 41% 46,X,idic(Yq) cells in a blood lymphocyte culture. METHODS AND RESULTS: Fluorescence in situ hybridisation (FISH) technique, using alpha-satellite Y-chromosome specific probe for locus DYZ3, confirmed the isodicentric character of this structurally abnormal Y chromosome. Polymerase chain reaction (PCR) analysis using primers for eight loci along the Y chromosome including SRY (Sex determining Region, Y gene) were positive for all loci tested, indicating that sequences from the long arm, centromere and most of the short arm of the Y chromosome are present. CONCLUSIONS: As patients with normal or rearranged Y chromosome have an increased risk of developing gonadal neoplasia prophylactic gonadectomy was performed in our patient. No evidence for gonadoblastoma was found on her streak-like gonads, but they showed some evidence of tubular formation. This paper points out the impact of cytogenetic and molecular genetic investigations in the definition of mosaicism in Turner's syndrome.
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