A Variant Klinefelter Syndrome Patient with an XXY/XX/XY Karyotype Studied by GTG-Banding and Fluorescence in Situ Hybridization

Mark, Hon Fong L.; Bai, Hongwei; Sotomayor, Edgar A.; Mark, Seamus; Zolnierz, Kathy; Airall, E.; Sigman, Mark

doi:10.1006/exmp.1999.2244

Cited by 14 publications

(11 citation statements)

References 22 publications

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“…We analyzed amplified gDNA from several different cell lines containing one X (NA19160, male), two X (NA19172, female), three X (NA04626), and four X (NA01416) chromosomes (Mark et al 1999;Bauters et al 2005). The genome profiles of the log R ratios and AF (B allele frequencies) are shown for the X chromosome juxtaposed next to an autosome (chromosome 10) for comparison purposes (Fig.…”

Section: Resultsmentioning

confidence: 99%

High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping

Peiffer¹,

Le²,

Steemers³

et al. 2006

Genome Res.

473

498

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Array-CGH is a powerful tool for the detection of chromosomal aberrations. The introduction of high-density SNP genotyping technology to genomic profiling, termed SNP-CGH, represents a further advance, since simultaneous measurement of both signal intensity variations and changes in allelic composition makes it possible to detect both copy number changes and copy-neutral loss-of-heterozygosity (LOH) events. We demonstrate the utility of SNP-CGH with two Infinium whole-genome genotyping BeadChips, assaying 109,000 and 317,000 SNP loci, to detect chromosomal aberrations in samples bearing constitutional aberrations as well tumor samples at sub-100 kb effective resolution. Detected aberrations include homozygous deletions, hemizygous deletions, copy-neutral LOH, duplications, and amplifications. The statistical ability to detect common aberrations was modeled by analysis of an X chromosome titration model system, and sensitivity was modeled by titration of gDNA from a tumor cell with that of its paired normal cell line. Analysis was facilitated by using a genome browser that plots log ratios of normalized intensities and allelic ratios along the chromosomes. We developed two modes of SNP-CGH analysis, a single sample and a paired sample mode. The single sample mode computes log intensity ratios and allelic ratios by referencing to canonical genotype clusters generated from ∼120 reference samples, whereas the paired sample mode uses a paired normal reference sample from the same individual. Finally, the two analysis modes are compared and contrasted for their utility in analyzing different types of input gDNA: low input amounts, fragmented gDNA, and Phi29 whole-genome pre-amplified DNA.

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Section: Resultsmentioning

confidence: 99%

High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping

Peiffer¹,

Le²,

Steemers³

et al. 2006

Genome Res.

473

498

View full text Add to dashboard Cite

show abstract

“…Surprisingly, in the present study we observed a very high incidence of KFM (seven out of 14), of which two were variants. An incidence of KFM or mosaic variant of approximately 15 % in KFS patients has been reported previously [17]. Conventional karyotyping of metaphase spreads of peripheral blood lymphocytes, when up to 20 cells are counted, may miss low-grade mosaicism.…”

Section: Discussionmentioning

confidence: 99%

Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome

Mitra¹,

Dada²,

Kumar³

et al. 2006

Asian J Andrology

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“…As expected, such aneuploidies have been more extensively studied in humans, often in relation to their phenotypic consequences (e.g. Hamerton et al 1975;De Braekeleer and Dao 1991;Mandoki et al 1991;Sayli et al 1994;Mark et al 1999). Other mammalian species, have been scantily studied from this aspect and the majority of the gathered data are either related to domestic animals (dog, cat, pig, horse, goat, etc.…”

Section: Introductionmentioning

confidence: 91%

First reports of XXY aneuploidy in natural populations of Thomas’ pine vole Microtus thomasi (Rodentia: Arvicolidae) from Greece

Rovatsos¹,

Mitsainas²,

Stamatopoulos³

et al. 2008

Mammalian Biology

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As part of an extensive cytological study in natural populations of Thomas' pine vole Microtus thomasi, two cases of XXY aneuploidy (2n ¼ 45, FN ¼ 47) from different localities of NW Peloponnesus, Greece were recently recorded. These constitute the first report of sex chromosome aneuploidy for this species, in a sample of 366 individuals from 89 localities of Greece. Both individuals appeared with a male phenotype and normal morphology; however, measurements and histological examination in the testes of one of the two individuals imply a severely impaired fertility. The above findings translate to a relatively high rate of sex chromosome aneuploidy (0.55%) (upper 95% CI 1.96%) for the natural populations of Microtus thomasi and possible reasons for this are discussed.

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A Variant Klinefelter Syndrome Patient with an XXY/XX/XY Karyotype Studied by GTG-Banding and Fluorescence in Situ Hybridization

Cited by 14 publications

References 22 publications

High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping

High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping

Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome

First reports of XXY aneuploidy in natural populations of Thomas’ pine vole Microtus thomasi (Rodentia: Arvicolidae) from Greece

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