Abstract
The Y chromosome is a small acrocentric chromosome whose chromatids tend to adhere in metaphase spreads because of the presence of a large block of heterochromatin. This makes up the distal half or so of the long arm and is visible by most C-banding procedures. It is especially bright by Q-banding, due to the AT-richness of its satellite DNA (Fig. 17.1). The Y chromosome contains some DNA sequences that are found only on the Y It is therefore possible to look for Y-DNA in maternal blood during and after pregnancy. Y-DNA is detectable as early as 5–7 weeks of gestation and disappears by 2 months post partum (Thomas et al., 1995). There is, on average, only about one fetal cell per ml of blood in pregnancies with a normal fetus. However, the number is more than five times as high, on average, in pregnancies with a 21-trisomic fetus (Bianchi et al., 1997). Fetal DNA appears to enter the maternal circulation in the form of viable cells. A number of groups have used powerful fluorescence-activated flow sorting to isolate the fetal cells, but the cells’ rarity has limited the development of this approach for early prenatal diagnosis. However, it has been used to diagnose trisomy 21 (Elias et al., 1992).
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Miller, O.J., Therman, E. (2001). Sex Determination and the Y Chromosome. In: Human Chromosomes. Springer, New York, NY. https://doi.org/10.1007/978-1-4613-0139-4_17
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DOI: https://doi.org/10.1007/978-1-4613-0139-4_17
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