Browsing by Subject "Ring Chromosome"

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    A Child With Radius Aplasia, Cleft of Lip and Palate, Microcephaly, and Unusual Chromosome Findings
    (Wiley, 1982-12) Butler, Merlin G.; Russell, Laura J.; Palmer, Catherine G.; Bull, Marilyn; Hodes, M.E.; Medical and Molecular Genetics, School of Medicine
    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.