Microsatellite analysis in Turner syndrome: Parental origin of X chromosomes and possible mechanism of formation of abnormal chromosomes

Monroy, Nancy; López, Marisol; Cervantes, Alicia; Garcı́a-Cruz, Diana; Zafra, G; Canún, Sonia; Zenteno, Juan Carlos; Kofman‐Alfaro, Susana

doi:10.1002/ajmg.10113

Cited by 20 publications

(16 citation statements)

References 42 publications

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“…However, and we agree with the hypothesis, given the nonviability of 45,Y cells, the reason for this ratio is that women have two chances of contributing to a monosomic offspring, while man has only one. Thus, the 2:1 ratio is not consistent with a protective effect of the maternal X-chromosome [8,9,20-22]. …”

Section: Discussionmentioning

confidence: 99%

Effect of the parental origin of the X-chromosome on the clinical features, associated complications, the two-year-response to growth hormone (rhGH) and the biochemical profile in patients with turner syndrome

Álvarez-Nava

Lanes

Quintero

et al. 2013

Int J Pediatr Endocrinol

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BackgroundIt is possible that genes on the X chromosome are expressed differently depending of its parental origin. The objective of this study was to determine the influence of the parental origin of the X-chromosome on phenotypic variability, response to rhGH and on the biochemical profile of TS patients.MethodsThis was a cross-sectional multicenter correlational study carried out over three years in six Latin-American university hospitals. Unrelated 45,X TS patients (n = 93; 18.3 ± 8.5 years )) were evaluated. A subgroup (n = 34) of the patients were prospectively treated with rhGH over two years. DNA profiles of patients and their mothers were compared to determine the parental origin of the retained X-chromosome through 10 polymorphic X-chromosome-STRs. The association with clinical features, biochemical profiles and anthropometric data at the beginning and after two years of rhGH treatment was determined.ResultsSeventy two percent of patients retained the maternal X chromosome (Xm). A trend towards significance between maternal height and patients final height (p ≤ 0.07) in 45,Xm subjects was observed. There was no correlation between paternal height and patient height. No differences were detected between both groups in regard to dysmorphic features, classical malformations or increase in the height-SDS after rhGH. There were higher levels of triglycerides, total and LDL cholesterol in patients >20 years who retained the Xm.ConclusionsThe parental origin of the retained X chromosome may influence lipid metabolism in TS patients, but its effect on growth seems to be minimal. No parental-origin-effect on the phenotypic features, associated anomalies and on the growth response to rhGH was found in 45,X TS individuals.

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Section: Discussionmentioning

confidence: 99%

Effect of the parental origin of the X-chromosome on the clinical features, associated complications, the two-year-response to growth hormone (rhGH) and the biochemical profile in patients with turner syndrome

Álvarez-Nava

Lanes

Quintero

et al. 2013

Int J Pediatr Endocrinol

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“…In literature, structural abnormalities of the X chromosome appear equally likely to occur in either parent: the frequency of breaks is higher in paternal meiosis, but the probability of recombination errors between both X chromosomes is only maternal, giving rise to equal proportions [20]. …”

Section: Discussion and Conclusionmentioning

confidence: 99%

A complete duplication of X chromosome resulting in a tricentric isochromosome originated by centromere repositioning

Villa

Conconi

Benussi³

et al. 2017

Mol Cytogenet

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BackgroundNeocentromeres are rare and considered chromosomal aberrations, because a non-centromeric region evolves in an active centromere by mutation. The literature reported several structural anomalies of X chromosome and they influence the female reproductive capacity or are associated to Turner syndrome in the presence of monosomy X cell line.Case presentationWe report a case of chromosome X complex rearrangement found in a prenatal diagnosis. The fetal karyotype showed a mosaicism with a 45,X cell line and a 46 chromosomes second line with a big marker, instead of a sex chromosome. The marker morphology and fluorescence in situ hybridization (FISH) characterization allowed us to identify a tricentric X chromosome constituted by two complete X chromosome fused at the p arms telomere and an active neocentromere in the middle, at the union of the two Xp arms, where usually are the telomeric regions. FISH also showed the presence of a paracentric inversion of both Xp arms.Furthermore, fragility figures were found in 56% of metaphases from peripheral blood lymphocytes culture at birth: a shorter marker chromosome and an apparently acentric fragment frequently lost.ConclusionsAt our knowledge, this is the first isochromosome of an entire non-acrocentric chromosome. The neocentromere is constituted by canonical sequences but localized in an unusual position and the original centromeres are inactivated.We speculated that marker chromosome was the result of a double rearrangement: firstly, a paracentric inversion which involved the Xp arm, shifting a part of the centromere at the p end and subsequently a duplication of the entire X chromosome, which gave rise to an isochromosome. It is possible to suppose that the first event could be a result of a non-allelic homologous recombination mediated by inverted low-copy repeats.As expected, our case shows a Turner phenotype with mild facial features and no major skeletal deformity, normal psychomotor development and a spontaneous development of puberty and menarche, although with irregular menses since the last follow-up.

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“…An additional 3% to 5% may have an unidentifiable marker with chromosomal material derived from the Y chromosome identified by fluorescent in situ hybridization (FISH). 10 -17 However, molecular analysis by DNA amplification of Y-chromosome-located genes (or microsatellite repeats) identifies an additional 2% to 4% of TS patients with presumably Y-chromosome-negative karyotypes 10,[15][16][17] (Fig. 1D).…”

Section: An Update On the Incidence Etiology And Chromosomal Constitmentioning

confidence: 96%

Turner Syndrome

Stratakis¹,

Rennert²

2005

The Endocrinologist

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It has been 10 years since our last review on Turner syndrome for The Endocrinologist. At the time, we focused on the recognition of this condition and the understanding, in the last 50 years, of its many clinical sequelae, starting from what Dr Turner had described; we also noted the first steps that the Genome Project had undertaken towards the molecular elucidation of the condition. As it befits any genetic condition in the early 21st century, the issues of the current review are quite different: the then-experimental treatment with recombinant growth hormone (rGH) is now approved and considered standard of practice (albeit not without significant controversy); patients with Turner syndrome, treated and untreated with rGH, are getting older, have entered the workforce, and have families of their own, and, thus, a previously unstudied phenotype emerges, that of the older adult with complete or partial chromosome X monosomy; and, finally, significant advances have been made in the molecular understanding of the condition that go well beyond chromosomal studies. The molecular biology of the X chromosome holds promise for the elucidation of such important and complex questions as what determines gender (and to some extent, perhaps, sexual identity), ovarian function (and, consequently, reproduction); processes such as skeletal maturation, proportions, and final height; and many other biologic parameters that are known to demonstrate X-linked differences.

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Microsatellite analysis in Turner syndrome: Parental origin of X chromosomes and possible mechanism of formation of abnormal chromosomes

Cited by 20 publications

References 42 publications

Effect of the parental origin of the X-chromosome on the clinical features, associated complications, the two-year-response to growth hormone (rhGH) and the biochemical profile in patients with turner syndrome

Effect of the parental origin of the X-chromosome on the clinical features, associated complications, the two-year-response to growth hormone (rhGH) and the biochemical profile in patients with turner syndrome

A complete duplication of X chromosome resulting in a tricentric isochromosome originated by centromere repositioning

Turner Syndrome

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