Clinical, cytogenetic, and molecular findings in 45,X/47,XX,+18 mosaicism: Clinical report and review of the literature

Schubert, Regine; Eggermann, Thomas; Hofstaetter, C.; Netzer, Barbara von; Knöpfle, G; Schwanitz, Gesa

doi:10.1002/ajmg.10442

Cited by 18 publications

(21 citation statements)

References 12 publications

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“…In some of the cases, haplotype analyses suggested a normal zygote formation followed by several mitotic errors during early divisions, resulting in mixoploidy of 45,X/ 46,XX/47, XX+8 (DeBrasi et al 1995). In other cases a meiotic division error of autosomal chromosome was followed by mitotic X chromosome loss, as was seen in patients with 45,X/47,XX+18 (Schubert et al 2002) and 45,X/47,XX,+21 (Harada et al 1998).…”

Section: Discussionmentioning

confidence: 83%

Sporadic aneuploidy in PHA-stimulated lymphocytes of Turner’s syndrome patients

et al. 2006

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In line with the view that aneuploidy destabilizes the karyotype, initiating an autocatalytic process that gives rise to further loss and/or gain of chromosomes, we examined whether a constitutional aneuploidy such as monosomy for one chromosome is associated with sporadic loss and/or gain of other chromosomes. We used PHA-stimulated lymphocytes from eight women with Turner's syndrome (six displayed X chromosome monosomy ranging from 60.2% to 97.9%, and two were below 10%), and eight healthy women who served as a control group. Fluorescence in-situ hybridization (FISH), applied at interphase, was used to evaluate the level of aneuploidy for three randomly selected chromosomes (autosomes 8, 15 and 18) in each sample. For each tested chromosome, our results showed a significantly higher level of aneuploid cells in the samples from patients than in those from controls (p < 0.01). The mean level of aneuploid cells for all three tested autosomes was almost twice as high in the patient samples as in the control samples (p < 0.002). It is noteworthy that, in the Turner's syndrome patients, X chromosome disomic cells also displayed increased levels of aneuploidy. It is possible that monosomy of X chromosome in female cells destabilizes their own genome and also affects X disomic cells in the region. One may also speculate that a common factor(s) is involved with both constitutional and sporadic aneuploidy.

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Section: Discussionmentioning

confidence: 83%

Sporadic aneuploidy in PHA-stimulated lymphocytes of Turner’s syndrome patients

et al. 2006

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“…The combination of monosomy X with [Cohen and Davidson, 1972;Schinzel et al, 1974;Hustinx et al, 1974;Prieur et al, 1972Prieur et al, , 1976Serville et al, 1977;Knudtzon et al, 1988;Eiben et al, 1989;Schofield et al, 1992;Franceschini et al, 1996;Mielke et al, 1997;Harada et al, 1998;Genuardi et al, 1999;Schubert et al, 2002;Cogulu et al, 2002], but the combination with trisomy 7 has not. Clinical findings in these patients are summarized in Table II.…”

Section: Discussionmentioning

confidence: 99%

Pigmentary mosaicism following the lines of Blaschko in a girl with a double aneuploidy mosaicism: (47,XX,+7/45,X)

Niessen

Jonkman

Muis

et al. 2005

American J of Med Genetics Pt A

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We report on a 6-year-old girl with linear streaks of apparent hypopigmentation and hyperpigmentation following the Blaschko lines, growth retardation, bupthalmos of the left eye, and mild mental retardation. She had a 45,X karyotype in lymphocytes. In cultured fibroblasts a double aneuploidy mosaicism was detected, consisting of a cell line with trisomy for chromosome 7 and a cell line with monosomy for the X-chromosome and no cell line with a normal karyotype. Cutis tricolor or three levels of pigmentation in different skin areas suggested presence of a third, probably normal cell line. Double aneuploidy mosaicism of a cell line with monosomy X and a cell line with trisomy of an autosome is a rare finding. The combination of monosomy X with trisomy of chromosomes 8, 10, 13, 18, and 21 has been reported, but not the combination with trisomy 7. In the 45,X cell line, microsatellite analysis showed loss of the maternal X-chromosome, and presence of a maternal and paternal chromosome 7. The 47,XX,þ7 cell line showed a paternal and a maternal X-chromosome, and a paternal and two identical maternal chromosomes 7. Mechanisms that might explain this double aneuploidy mosaicism are discussed.

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“…Two of these were phenotypically female with 45,X/47,XY,+18 karyotype [10,11], while one described a phenotypical male with 45,X/47,XY,+18 [12]. The remaining three describe a 45,X/47,XX,+18 karyotype, 2 of which were phenotypically female [13,14], and one undetermined [15]. Fibroblast culture was performed on all six patients with levels of mosaicism ranging from 50-100% 45,X.…”

Section: Discussionmentioning

confidence: 99%

Early Bilateral Gonadoblastoma in a Young Child with Mosaicism for Turner Syndrome and Trisomy 18 with Y Chromosome

MacMahon

O’Sullivan²,

McDermott³

et al. 2016

Horm Res Paediatr

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Mosaic Turner syndrome (TSM) commonly occurs in the form of 45,X/46,XX and 45,X/46,X,i(X)(q10). Mosaicism for a Y chromosome, 45,X/46,XY, has been well documented and is associated with increased risk of gonadoblastoma (GB). To date, there are only six reported cases of TSM with a trisomy 18 karyotype, and only two of these were phenotypically female with 45,X/47,XY,+18 karyotype. We present the case of a phenotypically female infant born with dysmorphic features. G-banded karyotype and interphase FISH of blood showed 45,X in 95% and 47,XY,+18 (trisomy 18) in 5% of cells analysed. However, interphase FISH of buccal cells showed only the presence of the 45,X cell line. Due to the presence of Y chromosome material, elective gonadectomy was performed at 13 months of age. There were bilateral streak ovaries with early evidence of GB bilaterally, a rudimentary uterus and bilateral fallopian tubes with unilateral ectopic adrenal tissue identified histologically. Interphase FISH of the gonadal tissue was similar to the blood findings with 45,X in 86% of cells and 47,XY,+18 in 14% of cells analysed. This case highlights a rare karyotype of TSM and trisomy 18 in the same patient and is the first reporting the associated finding of bilateral GB.

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Clinical, cytogenetic, and molecular findings in 45,X/47,XX,+18 mosaicism: Clinical report and review of the literature

Cited by 18 publications

References 12 publications

Sporadic aneuploidy in PHA-stimulated lymphocytes of Turner’s syndrome patients

Sporadic aneuploidy in PHA-stimulated lymphocytes of Turner’s syndrome patients

Pigmentary mosaicism following the lines of Blaschko in a girl with a double aneuploidy mosaicism: (47,XX,+7/45,X)

Early Bilateral Gonadoblastoma in a Young Child with Mosaicism for Turner Syndrome and Trisomy 18 with Y Chromosome

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