• 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)
Ming PL, Goodner DM, Park TS. Cytogenetic Variants in Holoprosencephaly: Report of a Case and Review of the Literature. Am J Dis Child. 1976;130(8):864–867. doi:10.1001/archpedi.1976.02120090074014
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