Turner Syndrome With Pseudodicentric Y Chromosome Mosaicism

Yao-Yuan Hsieh; Wu-Chou Lin; Chi-Chen Chang; Fuu-Jen Tsai; Ming-Tsung Yu; Horng-Der Tsai; Chang-Hai Tsai
June 2002
Journal of Assisted Reproduction & Genetics;Jun2002, Vol. 19 Issue 6, p302
Academic Journal
Compares the impact of gonadal cell line upon the phenotype of a Turner syndrome patient with mosaic karyotypes. Relation of the phenotype of patients with mosaicism and the individual proportion of gonadal cell lines; Clarity on the biological basis of sex development and differentiation; Level and distribution of mosaicism.


Related Articles

  • Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants. dos Santos, Ana Paula; Ribeiro Andrade, Juliana Gabriel; Cruz Piveta, Cristiane Santos; de Paulo, Juliana; Guerra-Junior, Gil; de Mello, Maricilda Palandi; Maciel-Guerra, Andréa Trevas // BMC Medical Genetics;2013, Vol. 14 Issue 1, p2 

    Background Partial and mixed gonadal dysgenesis (PGD and MGD) are characterized by genital ambiguity and the finding of either a streak gonad and a dysgenetic testis or two dysgenetic testes. The karyotype in PGD is 46,XY, whereas a 45,X/46,XY mosaicism or its variants (more than two lineages...

  • Pregnancy in a Woman with Mosaicism.  // Fertility Weekly;4/7/2003, p18 

    Reports on the occurrence spontaneous pregnancy in a women with mosaicism in serum and germ cell lines in the U.S. Percentage of patients diagnosed with Turner's syndrome on the chance of conception; Effects of amenorrhea and lack of pubertal development on initiating a hormone replacement...

  • Turner Syndrome with 45,X/46,XY mosaicism underwent gonadectomy: Report of 3 cases. Tokmak, Aytekin; Akselim, Burak; Yeşilyurt, Hüseyin // Eastern Journal of Medicine;2015, Vol. 20 Issue 2, p117 

    Turner syndrome (TS) is classically characterized by complete or partial absence of one X chromosome. A Y chromosome can be detected in some of the TS patients called mosaicism. In this study we report three cases of TS with a female phenotype and a 45,X/46,XY karyotype. All of the cases were...

  • Prevalence and Physical Distribution of SRY in the Gonads of a Woman with Turner Syndrome: Phenotypic Presentation, Tubal Formation, and Malignancy Risk. Baer, Tamar G.; Freeman, Christopher E.; Cujar, Claudia; Mansukhani, Mahesh; Singh, Bahadur; Chen, Xiaowei; Abellar, Rosanna; Oberfield, Sharon E.; Levy, Brynn // Hormone Research in Paediatrics;Oct2017, Vol. 88 Issue 3/4, p291 

    Although monosomy X is the most common karyotype in patients with Turner syndrome, the presence of Y chromosome material has been observed in about 10% of patients. Y chromosome material in patients with Turner syndrome poses an increased risk of gonadoblastoma and malignant transformation. We...

  • Effectiveness of Laparoscopic Gonadectomy Using Abdominal Wall Lift Method on Turner's Syndrome Patients with 45, X/46, XY Mosaicism. Nakano, Hideyuki; Kawashima, Mihoko; Okada, Satoshi; Igarashi, Toshio; Nakata, Maki; Ogino, Masahiro // Journal of Laparoendoscopic & Advanced Surgical Techniques;Apr2001, Vol. 11 Issue 2, p101 

    We present a Turner's syndrome patient with a 45, X/46, XY mosaicism who underwent a prophylactic laparoscopic gonadectomy using the abdominal wall lift method. The patient was a 14-year-old phenotypic girl who was referred for an examination of primary amenorrhea. She had already been found to...

  • Early Bilateral Gonadoblastoma in a Young Child with Mosaicism for Turner Syndrome and Trisomy 18 with Y Chromosome. MacMahon, Jayne M.; O'Sullivan, Maureen J.; McDermott, Michael; Quinn, Feargal; Morris, Thomas; Green, andrew J.; Betts, David R.; O'Connell, Susan M. // Hormone Research in Paediatrics;Mar2017, Vol. 87 Issue 2, p130 

    Mosaic Turner syndrome (TSM) commonly occurs in the form of 45,X/46,XX and 45,X/46,X,i(X)(q10). Mosaicism for a Y chromosome, 45,X/46,XY, has been well documented and is associated with increased risk of gonadoblastoma (GB). To date, there are only six reported cases of TSM with a trisomy 18...

  • Optimising management in Turner syndrome: from infancy to adult transfer. Donaldson, M. D. C.; Gault, E. J.; Tan, K. W.; Dunger, D. B. // Archives of Disease in Childhood;Jun2006, Vol. 91 Issue 6, p513 

    Turner syndrome can be defined as loss or abnormality of the second X chromosome in at least one cell line in a phenotypic female. The condition occurs in approximately 1 in every 2000 live female births,1 so that in the UK the prevalence for any year of life is in the region of 200 girls. The...

  • Establishment and long-term culture of the cell lines derived from gonad tissues of Siberian sturgeon (Acipenser baerii). Jun Hyung Ryu; Yoon Kwon Nam; Seung Pyo Gong // Fisheries & Aquatic Sciences;2016, p1 

    To culture germline stem cells in vitro, establishment of the cell lines that can be used as the feeder cells is a prerequisite. In this study, we tried to establish gonad-derived cell lines in Siberian sturgeon (Acipenser baerii). Five 1-year-old A. baerii were used as a donor of gonad tissues,...

  • Alopecia congenita universalis, microcephaly, cutis marmorata, short stature and XY gonadal dysgenesis: variable expression of El-Shanti syndrome. Teebi, Ahmad S.; Dupuis, Lucie; Wherrett, Diane; Khoury, Anthony; Zucker, Kenneth J. // European Journal of Pediatrics;2004, Vol. 163 Issue 3, p170 

    Unlabelled: Alopecia congenita, laryngomalacia, and XY gonadal dysgenesis has been reported recently as a new syndrome in two unrelated Arab families from Jordan. We report a 4-year-old girl of first cousin Arab parents who had alopecia, microcephaly, cutis marmorata, short stature...


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics