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Frequency of Y chromosomal material in Mexican patients with Ullrich-Turner syndrome

✍ Scribed by L�pez, Marisol; Canto, Patricia; Aguinaga, M�nica; Torres, Leda; Cervantes, Alicia; Alfaro, Guillermo; M�ndez, Juan Pablo; Kofman-Alfaro, Susana


Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
26 KB
Volume
76
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19980305)76:2<120::aid-ajmg3>3.0.co;2-x

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✦ Synopsis


Cytogenetic studies have shown that 40-60% of patients with Ullrich-Turner syndrome (UTS) are 45,X, whereas the rest have structural aberrations of the X chromosome or mosaicism with a second cell line containing a structurally normal or abnormal X or Y chromosome. However, molecular analysis has demonstrated a higher proportion of mosaicism, and studies in different populations have shown an extremely variable frequency of Y mosaicism of 0-61%. We used Southern blot analysis and polymerase chain reaction (PCR) to detect the presence of Ycen, ZFY, SRY, and Yqh in 50 Mexican patients with UTS and different karyotypes to determine the origin of marker chromosomes and the presence of Y sequences. Our results indicated the origin of the marker chromosome in 1 patient and detected the presence of Y sequences in 4 45,X patients. Taken together, we found a 12% incidence of Y sequences in individuals with UTS. The amount of Y-derived material was variable, making the correlation between phenotype and molecular data difficult. Only 1 patient had a gonadoblastoma. We discuss the presence of Y chromosomes or Y sequences in patients with UTS and compare our frequency with that previously reported. Am.


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