A child with radius aplasia, cleft of lip and palate, microcephaly, and unusual chromosome findings
- 1 December 1982
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 13 (4) , 369-372
- https://doi.org/10.1002/ajmg.1320130404
Abstract
We report a child with malformation syndrome of microcephaly, asymmetrical radius aplasia, and cleft of lip and palate, who was mosaic for a chromosome marker and/or ring of unknown origin. In view of the reported cases of limb deficiency with chromosome abnormalities and the unlikelihood that the patient has a recognized genetic syndrome, the cause of the patient's syndrome may well be the extra chromosomal material.Keywords
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