Detection of Y‐specific sequences in 122 patients with Turner syndrome: Nested PCR is not a reliable method

Nishi, Mirian Yumie; Domenice, Sorahia; Medeiros, Maria C. R.; Mendonca, Berenice B.; Billerbeck, Ana Elisa C.

doi:10.1002/ajmg.10168

Cited by 45 publications

(31 citation statements)

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“…25,39 Thus, caution should be exercised in the interpretation of Y-chromosome sequence PCR. FISH confirmation using a Y centromere probe after a positive PCR result is prudent.…”

Section: Pcrmentioning

confidence: 99%

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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“…25,39 Thus, caution should be exercised in the interpretation of Y-chromosome sequence PCR. FISH confirmation using a Y centromere probe after a positive PCR result is prudent.…”

Section: Pcrmentioning

confidence: 99%

Laboratory guideline for Turner syndrome

Wolff

Dyke²,

Powell³

2010

Genetics in Medicine

142

View full text Add to dashboard Cite

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“…[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. Thus, the use of molecular methods for identifying Y-chromosome-specific sequences has become an indispensable tool for detecting hidden mosaicism.…”

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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“…The use of polymerase-chain-reaction testing for Y-chromosome sequences has a high false positive rate. 9 Which chromosomal regions and genes account for the physical characteristics of Turner's syndrome remains uncertain (Fig 2). [10][11][12] It has been hypothesized that the physical manifestations of Turner's syndrome are due either to the absence of two normal sex chromosomes before X-chromosome inactivation or to haploinsufficiency of genes in the pseudoautosomal regions of the X or Y chromosome, as well as to aneuploidy itself.…”

mentioning

confidence: 99%