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Hum Genet. 1992 Aug;89(6):612-4.

Fragile site (16) (q22). III. Segregation analysis.

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  • 1Abteilung für pädiatrische Genetik und pränatale Diagnostik, Universität, München, Federal Republic of Germany.


The rare autosomal fragile site, fra (16) (q22), is the most common of all rare autosomal fragile sites and has a heterozygote frequency of about 5%. Evidence for it was found following the segregation expected from a simple codominant trait with complete penetrance; this is in contrast to a variety of other rare autosomal fragile sites. Based on the analysis of 12 families in which fra (16) (q22) is segregating, we found that, whereas complete penetrance could be confirmed, the transmitting parent was significantly more likely to be of the female sex. On the other hand, there was no evidence for preferential transmission to offspring of either sex.

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