A Turner-like phenotype in a girl with an isodicentric fluorescent Y chromosome mosaicism

Klinische Pädiatrie
E BergendiW Muss

Abstract

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. 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. 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. As patients with normal or rearranged Y chromosome have an increased risk of developing gonadal neoplasia prophylactic gonadectomy was performed in our patient...Continue Reading

Citations

Dec 23, 2008·São Paulo Medical Journal = Revista Paulista De Medicina·Henrique SoaresManuel Fontoura
Apr 5, 2000·American Journal of Medical Genetics·E MoravaG Kosztolányi
May 29, 2018·Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation·Maria L IezziAlberto Verrotti
Jul 28, 2005·International Journal of Urology : Official Journal of the Japanese Urological Association·Kentaro MizunoKenjiro Kohri
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Nov 8, 2020·Journal of Clinical Medicine·Pedro Acién, Maribel Acién

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