Cytogenetic Variants in Holoprosencephaly
- 1 August 1976
- journal article
- case report
- Published by American Medical Association (AMA) in American Journal of Diseases of Children
- Vol. 130 (8) , 864-867
- https://doi.org/10.1001/archpedi.1976.02120090074014
Abstract
• A newborn infant with classical features of holoprosencephaly and multiple extracranial malformations was found to have an abnormal karyotype: 47,XX, + 13. Although trisomy D has been reported in a few cases, our case is the first, to our knowledge, in which positive identification of trisomy 13 was made by banding technique in cebocephaly. (Am J Dis Child 130:864-867, 1976)Keywords
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