Mosaic Turner Syndrome Presenting with a 46,XY Karyotype
Joint Authors
Rasouli, Melody
McDaniel, Katherine
Awadalla, Michael
Chung, Karine
Source
Case Reports in Obstetrics and Gynecology
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-04-11
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
Although Turner syndrome is most commonly associated with a 45,X genotype, other mosaic genotypes are present in approximately half of all cases.
We describe a case of Turner syndrome with a 46,XY genotype by conventional 5-cell karyotype who was subsequently found to have a mosaic genotype of 18% 45,X and 82% 46,XY by 50-cell FISH analysis.
Individuals with a mosaic 45,X/46,XY genotype have a variety of phenotypic presentations ranging from male to female which are not correlated with the percentage of mosaicism.
Our case represents an extreme example where the genotype is predominately 46,XY and the phenotype typical of Turner syndrome.
American Psychological Association (APA)
Rasouli, Melody& McDaniel, Katherine& Awadalla, Michael& Chung, Karine. 2019. Mosaic Turner Syndrome Presenting with a 46,XY Karyotype. Case Reports in Obstetrics and Gynecology،Vol. 2019, no. 2019, pp.1-3.
https://search.emarefa.net/detail/BIM-1141616
Modern Language Association (MLA)
Rasouli, Melody…[et al.]. Mosaic Turner Syndrome Presenting with a 46,XY Karyotype. Case Reports in Obstetrics and Gynecology No. 2019 (2019), pp.1-3.
https://search.emarefa.net/detail/BIM-1141616
American Medical Association (AMA)
Rasouli, Melody& McDaniel, Katherine& Awadalla, Michael& Chung, Karine. Mosaic Turner Syndrome Presenting with a 46,XY Karyotype. Case Reports in Obstetrics and Gynecology. 2019. Vol. 2019, no. 2019, pp.1-3.
https://search.emarefa.net/detail/BIM-1141616
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1141616
