Ullrich‐Turner syndrome in mother and daughter: Prenatal diagnosis of a 46, X, del(X)(p21) offspring from a 45, X mother with low‐level mosaicism for the del(X)(p21) in one ovary

Varela, Maria; Shapira, Emmanuel; Hyman, D. B.

doi:10.1002/ajmg.1320390409

Cited by 27 publications

(13 citation statements)

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“…The existence tissue‐specific differences may help to interpret the phenotypic variation of Turner syndrome. Several studies have shown such tissue‐specific mosaicism in patients with 45,X cell line [16–18].…”

Section: Discussionmentioning

confidence: 99%

High frequency of tissue‐specific mosaicism in Turner syndrome patients

1999

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Interphase fluorescent studies of X chromosome aneuploidy in cultured and uncultured blood lymphocytes and oral mucosa epithelial cells using X centromere-specific DNA probe in addition to standard karyotype analysis were performed in 50 females with a clinical suspicion of Turner syndrome. All the patients were previously screened for the presence of 'hidden' Y chromosome mosaicism, using the primers DYZ3 and DYZ. The use of fluorescence in situ hybridization (FISH) analysis of interphase nuclei of tissues from different germ layers (lymphocytes from mesoderm and buccal epithelial cells from ectoderm) improves the accuracy of detection of low-level mosaicism. FISH studies on interphase nuclei revealed that 29% of patients with a pure form of monosomy X detected by metaphase analysis are, in fact, mosaics. The level of cells with the normal chromosomal constitution in lymphocytes of these cases as a rule was low, ranging from 3 to 18%, with an average of 7%. Two false-positive cases and one false-negative case of X monosomy mosaicism determined by standard cytogenetic approach were detected using FISH analysis. The majority of patients (92%) with mosaic form of Turner syndrome have considerable tissue-specific differences in levels of X aneuploidy. Our data indicate that in cases when mosaic aneuploidy with low-level frequency is questionable (approximately 10% and lower), the results of standard metaphase analysis should be supplemented with additional FISH studies of interphase nuclei. Tissue-specific differences in contents of different cell lines in the same patients point to the necessity of studying more than one tissue from each patient.

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Section: Discussionmentioning

confidence: 99%

High frequency of tissue‐specific mosaicism in Turner syndrome patients

1999

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“…In addition, the hereditary nature of the ring chromosome and other mosaic forms have been reported (9,10). Couples diagnosed with TS should be informed of the high probability of gonadal failure and infertility in their future children and the high risk of miscarriage and of fetal and/or chromosomal abnormalities in the offspring.…”

Section: Figurementioning

confidence: 98%

Successful pregnancy with preimplantation genetic diagnosis in a woman with mosaic Turner syndrome

Önalan¹,

Yılmaz

Durak³

et al. 2011

Fertility and Sterility

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“…Familial occurrence of Ullrich-Turner syndrome has been described in only few reports [Ayuso et al, 1984;Blumenthal et al, 1997;Fitzgerald et al, 1984;Fryns et al, 1982;Fryns et al, 1988;Varela et al, 1991;Verschraegen-Spae et al, 1992;Zinn et al, 1997]. In this case the mother, with extreme mosaicism in the lymphocytes and also short stature as a typical finding in the Ullrich-Turner syndrome is still fertile, suggesting a preponderance of cells with the karyotype 46,X,del(Xp21) in the gonads.…”

Section: American Journal Of Medical Genetics 80:436-438 (1998)mentioning

confidence: 61%