PMID: 9545090Apr 17, 1998Paper

PCR detection of Y-specific sequences in patients with Ullrich-Turner syndrome: clinical implications and limitations

American Journal of Medical Genetics
G R OsipovaO V Evgrafov

Abstract

Cytogenetic analysis of patients with Ullrich-Turner syndrome (UTS) may fail to detect low levels of Y chromosome mosaicism or Y-derived marker chromosomes. More sensitive polymerase chain reaction (PCR)-based tests have been developed; however, applicability of these data to prognosis of virilization and gonadoblastoma development has not been investigated adequately. We used a multiplex PCR-based method to detect two Y-specific sequences, SRY and AMGLY. Thirteen patients with UTS without cytogenetically detected Y chromosomes were studied. Y-specific sequences were detected in 5 patients by multiplex PCR. A cryptic translocation involving the Y chromosome was found in one patient with severe virilization of external genitalia and a male phenotype. Y chromosomal mosaicism was detected in peripheral blood and in both gonads of one patient, and only in the left gonad of another patient. Existence of a Y-derived marker was demonstrated in 2 patients, one of whom had no testicular tissue or virilization. Consistent with previous reports, we conclude that PCR is more sensitive than classical cytogenetic analysis and detects patients with Y-specific sequences in blood cells. However, the absence of Y-specific material in blood is no...Continue Reading

References

Feb 1, 1991·Genomics·Y NakahoriY Nakagome
Sep 1, 1988·Gene Analysis Techniques·B Lindblom, G Holmlund
Apr 15, 1993·Proceedings of the National Academy of Sciences of the United States of America·K McElreaveyM Fellous
Nov 1, 1995·Genes, Chromosomes & Cancer·P SaloA de la Chapelle
Feb 1, 1996·The Journal of Obstetrics and Gynaecology Research·K W LoJ H Chow

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Citations

Feb 18, 2012·Pediatrics International : Official Journal of the Japan Pediatric Society·Nergul CordukN Lale Satiroglu-Tufan
Sep 14, 2000·The Urologic Clinics of North America·H S Levin
Dec 24, 2014·Genetic Testing and Molecular Biomarkers·Marisol Ibarra-RamírezLaura Elia Martínez-de-Villarreal
Jun 1, 2010·São Paulo Medical Journal = Revista Paulista De Medicina·Rose Mary Rocco de OliveiraBianca Bianco
Feb 13, 2002·American Journal of Medical Genetics·Mirian Y NishiAna Elisa C Billerbeck
Dec 28, 2002·American Journal of Medical Genetics. Part a·Dalit Modan-MosesAyala Aviram-Goldring
Sep 23, 2003·The Journal of Urology·Nadine G HaddadMartin Kaefer
May 10, 2005·American Journal of Medical Genetics. Part a·Laura MazzantiEmanuele Cacciari
Feb 4, 2009·International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists·Bianca BiancoIeda T N Verreschi
Sep 22, 2000·The Journal of Clinical Endocrinology and Metabolism·C H GravholtJ Müller
Jun 1, 2006·Endocrine Reviews·Martine CoolsLeendert H J Looijenga
May 26, 1999·Clinical Endocrinology·C Chu

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