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August 1976

Cytogenetic Variants in Holoprosencephaly: Report of a Case and Review of the Literature

Author Affiliations

From the departments of pathology (Dr Ming), obstetrics and gynecology (Dr Goodner), and pediatrics (Dr Park), Temple University School of Medicine, Philadelphia.

Am J Dis Child. 1976;130(8):864-867. doi:10.1001/archpedi.1976.02120090074014

• 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)

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