A pericentric inversion of chromosome 9 and a rearrangement involving chromosomes 9 and 10, observed in two generations. Clinical description of chromosome 9 (p12-p21) deletion syndrome
- 23 April 2008
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 15 (6) , 480-486
- https://doi.org/10.1111/j.1399-0004.1979.tb00829.x
Abstract
The clinical picture [including multiple malformations] associated with a deletion of a central part of the short arm of chromosome 9 is described in 2 siblings. The clinical signs differ from those described in deletion of the terminal part of the short arm. Pericentric inversion of chromosome 9, combined with a rearrangement involving chromosomes 9 and 10, was found in the mother and the maternal grandmother of the propositus.Keywords
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