Mosaic Turner Syndrome Presenting with a 46,XY Karyotype

Overview

Journal Case Rep Obstet Gynecol

Publisher Wiley

Specialty Gynecology & Obstetrics

Date 2019 May 22

PMID 31110829

Citations 5

Authors

Melody Rasouli

Katherine McDaniel

Michael Awadalla

Karine Chung

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

Mosaic Turner Variant Adult Female Presenting with XO/XY Karyotype.

George S, Dagar V, Nagaraja N, Chakrabarty B J Hum Reprod Sci. 2023; 16(3):260-262.

PMID: 38045507 PMC: 10688273. DOI: 10.4103/jhrs.jhrs_71_23.

Non-Invasive Screening Test Paradox in a Case Born with Mixed Gonadal Dysgenesis (45,X/46,Xy).

Cobanogullari H, Akcan N, Ergoren M Balkan J Med Genet. 2023; 26(1):57-62.

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Mosaic Turner Syndrome With 45,X/46,XY Mosaicism and Apparent Absent Uterus.

Alhajjaj A, Altarouti S, Alkhabbaz F Cureus. 2021; 13(5):e14816.

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Turner Syndrome Associated With Refractory Seizures and Intellectual Disability: A Case Study.

Akasaka M, Kamei A, Ito J, Oyama K Cureus. 2020; 12(11):e11364.

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In utero Exposure to Genotoxicants Leading to Genetic Mosaicism: An Overlooked Window of Susceptibility in Genetic Toxicology Testing?.

Godschalk R, Yauk C, van Benthem J, Douglas G, Marchetti F Environ Mol Mutagen. 2019; 61(1):55-65.

PMID: 31743493 PMC: 6973016. DOI: 10.1002/em.22347.

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