Hypotriploidy 68,XX: a new case report and review of earlier cases.
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Hoedemaekers, Y.M.
Kleine, M.J. de
Stevens-Kroef, M.J.P.L. Marian
Smeets, E.E.J. Eric
Schrander-Stumpel, C.T.R.M. Constance
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Abstract
We report a prematurely born patient with a 68,XX karyotype. She presented with syndactyly of 2nd and 3rd toes, minor facial features, microcephaly, slender hands, bicuspid aortic valve, patent ductus arteriosus and hypotonia. Comparison with other reported cases is given.