Cytogenetic variants in holoprosencephaly. Report of a case and review of the literature.
A new infant with classical features of holoprosencephaly and multiple extracranial malformations was found to have 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.
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001344:Autopsy; D001921:Brain / Q000473:pathology; D002901:Chromosomes, Human, 13-15; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D009206:Myocardium / Q000473:pathology; D014314:Trisomy