Hypotriploidy 68,XX: a new case report and review of earlier cases.
SourceGenetic Counseling, 15, 3, (2004), pp. 329-333
Article / Letter to editor
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SubjectUMCN 5.1: Genetic defects of metabolism
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.
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