Interstitial deletion of the long arm of chromosome 6 associated with absent pulmonary valve
- 15 March 1991
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 38 (4) , 608-611
- https://doi.org/10.1002/ajmg.1320380421
Abstract
We report on a newborn infant with a deletion of 6q and absent pulmonary valve. His chromosome constitution was 46, XY,del (6) (q15q21). To our knowledge this is the first case with such combination. Some of his clinical features were found in common in 2 previous 6q – cases with the same breakpoints.Keywords
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