Fluorescence in situ hybridisation analysis and ovarian histology of women with Turner syndrome presenting with Y-chromosomal material: a correlation between oral epithelial cells, lymphocytes and ovarian tissue

Hanson, Lars Å.; Bryman, Inger; Janson, Per Olof; Jakobsen, Anne-Marie; Hanson, Charles

doi:10.1034/j.1601-5223.2002.1370101.x

Cited by 18 publications

(14 citation statements)

References 26 publications

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“…Detection of occult Y mosaicism in 45,X subjects using interphase fluorescent in situ hybridization (FISH) with a probe for the Y centromere (DYZ3) has been reported to range from 0% to 4%. 24,25 Prenatal testing Monosomy X is frequently identified by prenatal diagnostic procedures. Ultrasound findings can include nuchal translucency, cystic hygroma, coarctation of the aorta and/or other left-sided heart defects, brachycephaly, renal anomalies, polyhydramnios, oligohydramnios, and growth retardation.…”

Section: Presence Of Y Chromosome Materialsmentioning

confidence: 99%

“…13,[21][22][23][24][25] A meta-analysis of studies reporting a total of 541 patients with Turner syndrome without Y chromosome material on routine cytogenetic analysis found 5% mosaicism for a Y-containing cell line using molecular techniques (Southern blot and/or polymerase chain reaction [PCR]). The percentage of patients with Y chromosome mosaicism (by molecular or standard cytogenetic techniques) was 8%, and, of these, 12% had gonadoblastoma.…”

Section: Presence Of Y Chromosome Materialsmentioning

confidence: 99%

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Laboratory guideline for Turner syndrome

Wolff

Dyke²,

Powell³

2010

Genetics in Medicine

142

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Disclaimer: This guideline is designed primarily as an educational resource for health care providers to help them provide quality medical genetic services. Adherence to this guideline does not necessarily ensure a successful medical outcome. This guideline should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient's record the rationale for any significant deviation from this guideline. Abstract:Turner syndrome is a disorder that has distinct clinical features and has karyotypic aberrations with loss of critical regions of the X chromosome. Several clinical guidelines on the diagnosis and management of patients with Turner syndrome have been published, but there is relatively little on the laboratory aspects associated with this disorder. This disease-specific laboratory guideline provides laboratory guidance for the diagnosis/study of patients with Turner syndrome and its variants. Because the diagnosis of Turner syndrome involves both a clinical and laboratory component, both sets of guidelines are required for the provision of optimal care for patients with Turner syndrome. Genet Med 2010:12(1):52-55.

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Section: Presence Of Y Chromosome Materialsmentioning

confidence: 99%

Section: Presence Of Y Chromosome Materialsmentioning

confidence: 99%

Laboratory guideline for Turner syndrome

Wolff

Dyke²,

Powell³

2010

Genetics in Medicine

142

View full text Add to dashboard Cite

show abstract

“…The percentage of patients with Y chromosome mosaicism (by molecular or standard cytogenetic techniques) was 8%; of these, 12% had gonadoblastoma. Detection of occult Y mosaicism in 45,X subjects using interphase FISH with a probe for the Y centromere (DYZ3) has been reported to range from 0% to 4% ( 14 , 15 ). In our cohort, while 4% out of 842 cases were defined to have Y material using the standard method, 5/106 (4.7%) of SRY negative patients by the standard method were found to be SRY positive using the FISH method.…”

Section: Discussionmentioning

confidence: 99%

Turner Syndrome and Associated Problems in Turkish Children: A Multicenter Study

Yeşilkaya¹,

Bereket²,

Darendelıler³

et al. 2015

Jcrpe

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Objective:Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population.Methods:Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014.Results:The most common karyotype was 45,X (50.7%), followed by 45,X/46,XX (10.8%), 46,X,i(Xq) (10.1%) and 45,X/46,X,i(Xq) (9.5%). Mean age at diagnosis was 10.2±4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45,X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosis) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto’s thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%.Conclusion:This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespan.

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“…26 Another issue to be considered is the analysis of different tissues, since mosaicism may not be detected in peripheral blood, but may be significant in tissue samples of different embryonic origin, for example oral mucosa. [26][27][28][29] The presence of Y-chromosome material in individuals with TS can be investigated both cytogenetically and by using various molecular approaches. 30 The latter presents the advantages of not needing cell cultures and requiring only a rather small amount of material.…”

Section: Detection Of Mosaicismmentioning

confidence: 99%

Y chromosome in Turner syndrome: review of the literature

Oliveira¹,

Verreschi

Lipay

et al. 2009

Sao Paulo Med. J.

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Turner syndrome (TS) is one of the most common types of aneuploidy among humans, and is present in 1:2000 newborns with female phenotype.Cytogenetically, the syndrome is characterized by sex chromosome monosomy (45,X), which is present in 50-60% of the cases. The other cases present mosaicism, with a 45,X cell line accompanied by one or more other cell lines with a complete or structurally abnormal X or Y chromosome. The presence of Y-chromosome material in patients with dysgenetic gonads increases the risk of gonadal tumors, especially gonadoblastoma. The greatest concern is the high risk of developing gonadoblastoma or other tumors and virilization during puberty if chromosome Y-specific sequences are present. The role of the Y chromosome in human oncogenesis is still controversial. Even though gonadoblastoma is a benign tumor, it can undergo transformation into invasive dysgerminoma in 60% of the cases, and also into other, malignant forms of germ cell tumors. Although some authors have questioned the high incidence of gonadoblastoma (around 30%), the risk of developing any kind of gonadal lesion, whether tumoral or not, justifies investigation of Y-chromosome sequences by means of the polymerase chain reaction (PCR), a highly sensitive, low-cost and easy-to-perform technique. In conclusion, mosaicism of both the X and the Y chromosome is a common finding in TS, and detection of Y-chromosome-specific sequences in patients, regardless of their karyotype, is necessary in order to prevent the development of gonadal lesions. RESUMOA síndrome de Turner (ST) é uma das aneuploidias mais comuns em humanos e está presente em 1:2000 recém-nascidas com fenótipo feminino.Citogeneticamente, a síndrome é caracterizada por uma monossomia de cromossomo sexual (45,X) em 50-60% dos casos. Os demais casos apresentam mosaicismo com uma linhagem celular 45,X acompanhada de outra(s) com o cromossomo X ou Y íntegros ou com alterações estruturais. A presença de material do cromossomo Y em pacientes com gônadas disgenéticas aumenta o risco de tumores gonadais, especialmente gonadoblastoma. A consideração mais importante diz respeito ao elevado risco de desenvolvimento de gonadoblastoma ou outros tumores e a virilização na puberdade se sequências cromossomo Y-específicas estiverem presentes. O papel do cromossomo Y na oncogênese dos cânceres humanos ainda é controverso.Apesar de o gonadoblastoma ser um tumor benigno, ele pode transformar-se num disgerminoma invasivo em 60% dos casos e também em outras formas malignas de tumores de células germinativas. Apesar de alguns autores questionarem a alta incidência (em torno de 30%) de gonadoblastoma, o risco do desenvolvimento de qualquer tipo de lesão gonadal, tumoral ou não, justifica a pesquisa de sequências do cromossomo Y por PCR (reação de polimerase em cadeia), técnica de alta sensibilidade, baixo custo e fácil execução. Em conclusão, o mosaicismo cromossômico tanto do X como do Y é um fato comum na ST e a detecção de sequências cromossomo Y-específicas nas portadoras, indepen...

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Fluorescence in situ hybridisation analysis and ovarian histology of women with Turner syndrome presenting with Y-chromosomal material: a correlation between oral epithelial cells, lymphocytes and ovarian tissue

Cited by 18 publications

References 26 publications

Laboratory guideline for Turner syndrome

Laboratory guideline for Turner syndrome

Turner Syndrome and Associated Problems in Turkish Children: A Multicenter Study

Y chromosome in Turner syndrome: review of the literature

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