Sex chromosome markers: Characterization using fluorescence in situ hybridization and review of the literature

Schwartz, Stuart; Depinet, Theresa W.; Leana-Cox, Julie; Isada, Nelson B.; Karson, Evelyn M.; Park, Vicki M.; Pasztor, Linda M.; Sheppard, Linda C.; Stallard, Richard E.; Wolff, Daynna J.; Zinn, Arthur B.; Zurcher, Vickie; Zackowski, Joleen L.

doi:10.1002/(sici)1096-8628(19970711)71:1<1::aid-ajmg1>3.0.co;2-1

Cited by 38 publications

(10 citation statements)

References 53 publications

(70 reference statements)

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“…Similarly, the specific detection of male cells in a male/ female epithelial cell mixture, for example male cells under female fingernails or male saliva on female skin, could be of real advantage. Therefore, we used a staining method that detects all cells carrying a Y-chromosome (Schwarz et al 1997) with a digoxigenin labelled chromosome Y cocktail probe from Q Biogen (Q Biogen, Illkirch, France). One Y-specific probe in this cocktail hybridises to multicopy alphoid DNA located at the centromere, a second probe in this cocktail hybridises to short repeated satellites located in the percentric heterochromatin of human chromosome Y.…”

Section: Introductionmentioning

confidence: 99%

Digoxigenin labelling and laser capture microdissection of male cells

et al. 2005

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Laser capture microdissection (LMD) is a relatively new technique for the isolation of single cells. The application in forensic investigations has become more and more widespread, especially to select spermatozoa out of mixtures with vaginal cells. In particular in cases with low numbers of sperm it could be profitable to isolate all male cells (e.g. sperm and male epithelial cells) instead of focussing on the sperm only. Therefore, the specific labelling and detection of the male cells in a male/female cell mixture is necessary. In order to label all cells carrying a Y-chromosome we used a digoxigenin labelled chromosome Y hybridisation probe (Q Biogen). The stained cells were isolated with the SL microCut LMD system from Molecular Machines & Industries AG (MMI). At least ten diploid male cells were required to obtain a partial STR profile, with 20 cells, a full profile could be obtained.

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Section: Introductionmentioning

confidence: 99%

Digoxigenin labelling and laser capture microdissection of male cells

et al. 2005

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“…In addition, undertaking cell culture is time consuming, resulting in a reporting time of nearly 2 weeks. Compared with traditional karyotyping, fluorescence in situ hybridization (FISH) does not need cultured cells and results can be obtained in 24–48 h . Nevertheless, the labor intensity, subjective factors as well as unavailability of a high‐throughput system and the high‐testing cost, restricts the popularity of FISH.…”

Section: Introductionmentioning

confidence: 99%

Prenatal diagnosis of trisomy 21, 18 and 13 by quantitative pyrosequencing of segmental duplications

Tong

Jin

et al. 2016

Clinical Genetics

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Chromosomal aberration mostly occurs in chromosomes 21, 18 and 13, with an incidence approximately 1 out of 160 live births in humans, therefore making prenatal diagnosis necessary in clinics. Current methods have drawbacks such as time consuming, high cost, complicated operations and low sensitivity. In this paper, a novel method for rapid and accurate prenatal diagnosis of aneuploidy is proposed based on pyrosequencing, which quantitatively detects the peak height ratio (PHR) of different bases of segmental duplication. A direct polymerase chain reaction (PCR) approach was undertaken, where a small volume of amniotic fluid was used as the starting material without DNA extraction. Single-stranded DNA was prepared from PCR products and subsequently analyzed using pyrosequencing. The PHR between target and reference chromosome of 2.2 for euploid and 3:2 for a trisomy fetus were used as reference. The reference intervals and z scores were calculated for discrimination of aneuploidy. A total of 132 samples were collected, within trisomy 21 (n = 11), trisomy 18 (n = 3), trisomy 13 (n = 2), and unaffected controls (n = 116). A set of six segmental duplications were chosen for analysis. This method had consistent results with karyotyping analysis, a correct diagnosis with 100% sensitivity and 99.9% specificity.

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“…The clinical importance of establishing the origin of such marker chromosomes, especially for establishing risks associated with Y‐derived marker chromosomes and gonadal malignancy, has been well documented [3]. It has also been suggested that milder UTS phenotypes are associated with Y‐derived marker chromosomes [4], whereas atypical or severe UTS phenotypes, which may include mental retardation, are more commonly associated with the presence of X‐derived marker chromosomes [5]. To our knowledge, the origin of marker chromosomes in cases ascertained by a presumptive UTS diagnosis and/or cytogenetic findings of sex chromosome loss have always been identified as being either from the X or Y chromosome [4,6].…”

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confidence: 99%

“…Fluorescence in situ hybridization (FISH) techniques have proven to be some of the most effective techniques for determining the origin of marker chromosomes [4]. However, establishing the chromosomal origin of such marker chromosomes alone is not sufficient to explain the manifestation of a severe or atypical UTS phenotype.…”

mentioning

confidence: 99%

A non‐sex chromosome marker in a patient with an atypical Ullrich–Turner phenotype and mosaicism of 46,X,mar/46,XX

Gray

Bent-Williams

et al. 2001

Clinical Genetics

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The absence of a sex chromosome in conjunction with the presence of a marker chromosome generally implicates a sex chromosome origin for such marker chromosomes. These types of findings are frequently associated with Ullrich-Turner syndrome. We report a patient that presented with an atypical Ullrich-Turner phenotype and a cytogenetic mosaicism of 46,X,mar/46,XX. The marker chromosome was derived from chromosome 20, not from the X or Y chromosome. The patient's clinical features are described and discussed relative to the cytogenetic findings. This case further demonstrates the necessity of marker chromosome identification for accurate phenotype-karyotype correlation.

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Sex chromosome markers: Characterization using fluorescence in situ hybridization and review of the literature

Cited by 38 publications

References 53 publications

Digoxigenin labelling and laser capture microdissection of male cells

Digoxigenin labelling and laser capture microdissection of male cells

Prenatal diagnosis of trisomy 21, 18 and 13 by quantitative pyrosequencing of segmental duplications

A non‐sex chromosome marker in a patient with an atypical Ullrich–Turner phenotype and mosaicism of 46,X,mar/46,XX

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