Mosaic Turner Syndrome Presenting with a 46,XY Karyotype

Rasouli, Melody A.; McDaniel, Katherine E.; Awadalla, Michael S.; Chung, Karine

doi:10.1155/2019/3719178

Cited by 10 publications

(10 citation statements)

References 13 publications

(14 reference statements)

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“…Rasouli et al reported that in cases where conventional karyotype results do not closely match the clinical presentation, FISH analysis with interphase cells may be informative for mosaicism [ 18 ]. Therefore, we additionally performed the FISH analysis and the cheek swab examinations during the same time as the G-band analysis; however, both examinations also revealed 100% 45, X.…”

Section: Discussionmentioning

confidence: 99%

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

Akasaka

Kamei

Ito

et al. 2020

Cureus

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Turner syndrome (TS) is the most frequent sex abnormality in women. The physical features include short stature, webbing of the neck, and gonadal dysgenesis. Typically, patients with Turner syndrome exhibit no intellectual disability, and a few cases of TS have been associated with epilepsy. Herein, we present a case of TS with intractable epilepsy. The patient presented with global developmental delay at the age of two and karyotyping revealed mosaicism [45, X/46, X del (X) (q21.1)]. At the age of seven, she had generalized tonic epilepsy as well as several focal-onset seizures. She developed daily seizures, which were refractory to several antiepileptic drugs. Interictal electroencephalography (EEG) revealed multifocal spikes, and ictal EEG revealed shifting foci. She visited our hospital at the age of 13. Her peripheral white blood cells G-band and fluorescence in situ hybridization (FISH) method chromosome with cheek swab examinations revealed 45, X. Her peripheral white blood cell mosaic pattern may have disappeared over time or become indetectable. We treated her with clobazam, and then lamotrigine and valproic acid combination therapy, which resulted in a reduction in the frequency of seizures by approximately 50%. Epilepsy and intellectual disability in this case may be due to the mosaic deletion at Xq21.1. Further analysis of similar cases may provide valuable information for effective therapeutic strategies.

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Section: Discussionmentioning

confidence: 99%

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

Akasaka

Kamei

Ito

et al. 2020

Cureus

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“…All life junctures are vulnerable to genetic mosaicism but the early stages of development are more susceptible to mosaicism because cellular proliferation rates are quite high, whereas DNA repair capabilities diminish in the later stages of life. 6 During an embryonic stage, some mutations are proven fatal during initial developmental periods, especially during the period of organogenesis, increasing the probability of clonal expansion and the detrimental effect on phenotype. 7 In genetic mosaicism, mutations can affect a single base to large DNA rearrangements, which can involve a few or thousands of bases to the whole of the chromosome.…”

Section: How a N D When It Happens?mentioning

confidence: 99%

“…According to preimplantation genetic diagnosis international society (PGDIS) guidelines, during ART embryo transfers mosaic trisomies 1,3,4,5,6,8,9,10,11,12,17,19,20,22, X, and Y should be favored over mosaic trisomies 2, 7, 13, 14, 15, 16, 18, and 21. This is may be because the latter group of trisomies carries the known risks of syndromes like Patau syndrome and Down syndrome.…”

Section: Pgdis Guidelinesmentioning

confidence: 99%

Transferring Mosaic Embryos during ART Cycles: Increasing the Load of Genetic Diseases in Human Generations—A Critical Analysis

Nagpal¹,

Kaur²,

Sandhu³

2020

AMEI's Current Trends in Diagnosis &Amp; Treatment

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"Mosaic" as an adjective describes any type of work or art which is produced by joining of many small pieces differing in size and color. Virtually all multicellular organisms are mosaics of cells with different forms and functions. Normal developmentally determined mosaicism involves permanent changes in the DNA of somatic cells giving rise to specialized cells of various organ systems of the body. Several mechanisms, such as cell cycle dysregulation, centrosome overduplication, and cancer formation, have been reported as end products of mosaicism, either chromosomal or germline, arisen prenatally or postnatally, in many cases. There is an extensive literature present which describes the presence of genetic mosaicism in human diseases. With the development of more advanced molecular genetic diagnostic techniques, it has been recognized that genetic mosaicism is involved in many monogenic and polygenic complex diseases. This review highlights the dilemma between the creation and transferring of the mosaic embryos detected by preimplantation genetic diagnosis aneuploidy testing during assisted reproductive technology cycles. The main question of concern is not only the implantation potential of the accepted mosaic embryos but also the well-being of future generations to follow from these phenotypically normal mosaic individuals.

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“…The main presentation of patients with 45,X/46,XY mosaicism is mixed gonadal dysgenesis (MGD), but they may have different phenotypes depending on the percentage distribution of mosaicism in gonadal tissues and blood. These phenotypes include normal female, TS, genital ambiguity, and male phenotype [5].…”

Section: Introductionmentioning

confidence: 99%

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

Alhajjaj¹,

Altarouti²,

Alkhabbaz³

2021

Cureus

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Turner syndrome (TS) is a relatively common chromosomal abnormality in females. Short stature, gonadal dysgenesis, and somatic dysmorphic features are the characteristic features of the syndrome. The chromosomal abnormalities of TS are highly variable; 45,X/46,XY mosaicism accounts for 10-12% of cases of Turner syndrome. Despite the presence of hypogonadism, affected females typically have a uterus. Here, we report the case of a 22-year-old female who presented at 15 years of age with primary amenorrhea. She was diagnosed with Turner syndrome mosaicism with a karyotype of 45,X/46,XY. Her pelvic imaging showed an absent uterus and ovaries. Due to the presence of a Y chromosome, she underwent prophylactic gonadectomy. Histopathology of her removed gonads confirmed the diagnosis of mixed gonadal disorder. She was started on estrogen replacement. Four years after treatment, she developed her menses. Her repeated pelvic magnetic resonance imaging showed the presence of a small uterus.

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Mosaic Turner Syndrome Presenting with a 46,XY Karyotype

Cited by 10 publications

References 13 publications

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

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

Transferring Mosaic Embryos during ART Cycles: Increasing the Load of Genetic Diseases in Human Generations—A Critical Analysis

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

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