Prenatal interphase detection by FISH of a sex chromosome mosaicism when cytogenetics reports a pseudomosaicism

The results suggest that 47,XXY patients with an increased incidence of XY cells (average of 4.2 +/- 2.3) may have a higher probability of germ cells as we found sperm only in the ejaculate of Klinefelter syndrome patients with mosaic 46,XY cells (6.0 and 7.0%). On the other hand, 46,XY patients with mosaic sex chromosome aneuploidies detected by FISH analysis more often show symptoms of hypogonadism phenotypically resembling Klinefelter syndrome.

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Prenatal interphase detection by FISH of a sex chromosome mosaicism when cytogenetics reports a pseudomosaicism

Cited by 5 publications

References 11 publications

Prenatally detected true double trisomy mosaic 12 and 13 not confirmed in fetal and placental tissues by conventional cytogenetic methods, but suggested by FISH analysis

Prenatally detected true double trisomy mosaic 12 and 13 not confirmed in fetal and placental tissues by conventional cytogenetic methods, but suggested by FISH analysis

Apport de la génétique chromosomique moléculaire au diagnostic prénatal et périnatal des anomalies chromosomiques et des maladies géniques

Mosaic status in lymphocytes of infertile men with or without Klinefelter syndrome

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