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Am J Hum Genet. 1994 Nov;55(5):1050-3.

A familial association between twinning and upper-neural tube defects.

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Department of Human Genetics, McGill University, Montreal, Quebec, Canada.


An increased twinning rate has been observed in the near relatives (sibs, parents, and aunts and uncles) of probands with neural tube defects (NTDs) occurring at the level of the 11th thoracic vertebra and above (upper NTDs). The twin rate was more than double that of the near relatives of probands with lower NTDs and of those of probands with Mendelian disorders (the controls). The excess twinning was same sex and can therefore consist of either MZ or same-sex DZ twins. Furthermore, upper-NTD families with twins had a higher NTD-sibling occurrence rate than did families without twins. These findings, if corroborated, may imply an etiology common to twinning and NTDs and can perhaps be applied in counseling NTD families.

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