Open AccessA child with radius aplasia, cleft of lip and palate, microcephaly, and unusual chromosome findings
Author(s) -
Butler Merlin G.,
Russell Laura J.,
Palmer Catherine G.,
Bull Marilyn,
Hodes M. E.,
Opitz John M.
Publication year - 1982
Publication title -
american journal of medical genetics
Language(s) - English
Resource type - Journals
eISSN - 1096-8628
pISSN - 0148-7299
DOI - 10.1002/ajmg.1320130404
Subject(s) - microcephaly , aplasia , hypoplasia , ring chromosome , chromosome , medicine , pediatrics , genetics , anatomy , biology , karyotype , gene
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.