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Fragile site (16) (q22)

✍ Scribed by B. Müller; W. Feichtinger; C. Bonaïti-Pellié; M. Schmid

Publisher: Springer
Year: 1992
Tongue: English
Weight: 210 KB
Volume: 89
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00221948

No coin nor oath required. For personal study only.

✦ Synopsis

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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