Rare Types of Turner Syndrome: Clinical Presentation and Cytogenetics in Five Cases

Akbaş, Etem; Altintas, Zuhal Mert; Çelik, Sevim; Dilek, Umut; Delibaş, Ali; Özen, Samim; Mamur, Badel Aslan; Uyaniker, Gülen Aslan

doi:10.1309/lmezqxk85cdp4hyn

Cited by 7 publications

(8 citation statements)

References 15 publications

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“…Isochromosome Xq is identified in 7-17% of Turner syndrome [Akbas et al, 2012] and a number of mechanisms have been proposed for its development [Koumbaris et al, 2011]. Regardless of the mechanism leading to the misdivision, the result is a derivative chromosome in which both arms are mirror images.…”

Section: Discussionmentioning

confidence: 99%

Prader–Willi syndrome and Tay–Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq

Zeesman

McCready

Sadiković

et al. 2014

American J of Med Genetics Pt A

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Malsegregation of chromosomes during reproduction can result in uniparental disomy when associated with trisomy rescue, monosomy rescue or gamete complementation. Pathogenicity stemming from uniparental disomy in liveborns results from imprinting disorders or autozygosity for autosomal recessive disorders. We report on a girl with Prader-Willi syndrome and Tay-Sachs disease resulting from maternal uniparental disomy of chromosome 15. The child also had an isochromosome Xq. To further characterize the etiology of the aberrant chromosome 15 and the isochromosome Xq, SNP loci from both chromosomes were assessed in the proband and parents, and genome-wide DNA methylation analysis was performed. SNP and DNA methylation analysis confirmed maternal uniparental heterodisomy around the Prader-Willi locus, while the region around the HEXA locus showed maternal uniparental isodisomy. This result is consistent with trisomy rescue of a maternal meiosis l error in a chromosome 15 with two meiotic recombinations. SNP analysis of the X chromosomes is consistent with a maternal origin for the isochromosome.

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Section: Discussionmentioning

confidence: 99%

Prader–Willi syndrome and Tay–Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq

Zeesman

McCready

Sadiković

et al. 2014

American J of Med Genetics Pt A

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“…Evidence suggests that the risk of hypothyroidism, mild intellectual disability, and partially-developed nipples increased compared to XO syndrome (11). Nonetheless, low posterior hairline, a webbed neck, and hypoplastic nails have been less reported in this population (12). Nevertheless, short stature, amenorrhea, shortening of the 4 th metacarpal bone, streak gonads, and pigmented nevi are observed in both cases (11).…”

Section: Discussionmentioning

confidence: 94%

A Rare Variant of Turner Syndrome (the X Isochromosome-X Syndrome): A Case Report

Samimagham

Jahromi

2021

Dis Diagn

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Background: Turner syndrome occurs in nearly one in every 2000-5000 female births. This syndrome is a genetic problem in the female phenotype and the most common sex chromosome anomaly. It is diagnosed based on clinical manifestations and cytogenetic examinations. The classic syndrome (i.e., monosomy X) makes up 50% of the cases while other forms contain X chromosome variants, which do not typically manifest as the classic X phenotype. Case Presentation: This study, presents a rare variant of Turner syndrome reported in a 20-year-old woman presenting with primary amenorrhea, hypothyroidism, and short stature who had hypergonadotropic hypogonadism with hypoplastic ovaries while without the clinical manifestations of the classic Turner syndrome. The karyotype was determined as X isochromosome-X syndrome [46 XXi (Xq)]. Conclusion: This rare syndrome occurs in approximately 7% of the cases of Turner syndrome. Rare variants of the syndrome should also be considered in female patients without the classic manifestations of Turner syndrome.

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“…In contrast to the notion that the ratios do not have predictive value, Akbas et al present the theory that patients with the 45,X/47,XXX karyotype demonstrate the phenotypes in proportion to their degree of mosaicism [ 16 ]. They present the case of a patient with a 35%/65% 45,X/47,XXX ratio.…”

Section: Discussionmentioning

confidence: 99%

45,X/47,XXX Mosaicism and Short Stature

Everest

Tsilianidis

Haider

et al. 2015

Case Reports in Pediatrics

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We describe the case of a ten-year-old girl with short stature and 45,X/47,XXX genotype. She also suffered from vesicoureteric reflux and kidney dysfunction prior to having surgery on her ureters. Otherwise, she does not have any of the characteristics of Turner nor Triple X syndrome. It has been shown that this mosaic condition as well as other varieties creates a milder phenotype than typical Turner syndrome, which is what we mostly see in our patient. However, this patient is a special case, because she is exceptionally short. Overall, one cannot predict the resultant phenotype in these mosaic conditions. This creates difficulty in counseling parents whose children or fetuses have these karyotypes.

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Rare Types of Turner Syndrome: Clinical Presentation and Cytogenetics in Five Cases

Cited by 7 publications

References 15 publications

Prader–Willi syndrome and Tay–Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq

Prader–Willi syndrome and Tay–Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq

A Rare Variant of Turner Syndrome (the X Isochromosome-X Syndrome): A Case Report

45,X/47,XXX Mosaicism and Short Stature

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