Media type: E-Article Title: PCR‐based study of the presence of Y‐chromosome sequences in patients with Ullrich‐Turner syndrome Contributor: Coto, Eliecer; Toral, Joaquín F.; Menéndez, María J.; Hernando, Inés; Plasencia, Ana; Benavides, Ana; López‐Larrea, Carlos Published: Wiley, 1995 Published in: American Journal of Medical Genetics, 57 (1995) 3, Seite 393-396 Language: English DOI: 10.1002/ajmg.1320570305 ISSN: 0148-7299; 1096-8628 Keywords: Genetics (clinical) Origination: Footnote: Description: AbstractThe presence of Y chromosome sequences in Ullrich‐Turner syndrome (UTS) patients has been suggested in previous work. Karyotype analysis estimated at about 60% of patients with a 45, X constitution and molecular analysis (Southern blot analysis with several Y chromosome probes and PCR of specific sequences) identified the presence of Y chromosome material in about 40% of 45, X patients.We have developed a very sensitive, PCR‐based method to detect Y specific sequences in DNA from UTS patients. This protocol permits the detection of a single cell carrying a Y sequence among 105 Y‐negative cells. We studied 18 UTS patients with 4 Y‐specific sequences. In 11 patients we detected a positive amplification for at least one Y sequence. The existence of a simple and sensitive method for the detection of Y sequences has important implications for UTS patients, in view of the risk for some of the females carrying Y‐chromosome material of developing gonadoblastoma and viriliza‐tion. Additionally, some of the UTS associated phenotypes, such as renal anomalies, could be correlated with the presence of Y chromosome specific sequences. © 1995 Wiley‐Liss, Inc.