Cytogenetic Variants in Holoprosencephaly

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)