Short rib-polydactyly syndrome and pericentric inversion of chromosome 4
- 1 January 1994
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 49 (1) , 94-97
- https://doi.org/10.1002/ajmg.1320490118
Abstract
We report on a newborn infant with clinical and radiological manifestations of some type of short rib-polydactyly syndrome who died soon after birth. Chromosomal studies on peripheral blood lymphocytes and chondrocytes demonstrated an apparently balanced pericentric inversion of chromosome 4 (present in the mother also). This association may have occurred by chance but, if not, the chromosomal breakpoints could interrupt the gene responsible for short rib-polydactyly syndromes, or else be related to the mechanism of short rib-polydactyly syndromes.Keywords
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