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Frequency of the 7q11.23 inversion polymorphism in transmitting parents of children with Williams syndrome and in the general population does not differ between North America and Europe.

Abstract：

: Inversion of the Williams syndrome (WS) region on chromosome 7q11.23 has previously been shown to occur at a higher frequency in the transmitting parents of children with WS than in the general population, suggesting that it predisposes to the WS deletion. Frohnauer et al. recently reported that the frequency of this inversion is not elevated in the parents of children with WS in Germany relative to the German general population. We have compared Frohnauer et al.'s data to those from three previously published studies (Hobart et al., Bayes et al., Osborne et al.), all of which reported a significantly higher rate of 7q11.23 inversion in transmitting parents than in the general population. Results indicated that Frohnauer et al.'s data are consistent with previously reported frequencies of 7q11.23 inversion in North America and Spain in both transmitting parents and the general population.

journal_name

Mol Cytogenet

journal_title

Molecular cytogenetics

authors

Morris CA,Mervis CB,Osborne LR

doi

10.1186/1755-8166-4-7

subject

Has Abstract

pub_date

2011-02-28 00:00:00

pages

7

issn

1755-8166

pii

1755-8166-4-7

journal_volume

4

pub_type

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