title: Holoprosencephaly-polydactyly (pseudotrisomy 13) syndrome: case report and diagnostic criteria.
abstract: We report a new case of a fetus with holoprosencephaly-polydactyly syndrome, also known as pseudo-trisomy 13 syndrome, and no other apparent abnormalities except for septal agenesis of the left lung. The fetal karyotype was normal. Mutational analysis of five genes (SHH, SIX3, TGIF, ZIC2, and GLI3), which are major genes associated with holoprosencephaly, did not disclose any mutational findings. We therefore propose that the abnormalities of our fetus support the demarcation of this syndrome as an autonomous phenotype. Specific diagnostic criteria for holoprosencephaly-polydactyly syndrome need to be complemented by the absence of mutations in the major holoprosencephaly genes.
authors.affiliation: Department of Pathology and Laboratory Medicine, University of Alberta, Edmonton, Alberta, Canada.
authors.forename: Consolato
authors.initials: C
authors.lastname: Sergi
authors.forename: Jean
authors.initials: J
authors.lastname: Gekas
authors.forename: Deepak
authors.initials: D
authors.lastname: Kamnasaran
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000025:Abortion, Eugenic; D000328:Adult; D002871:Chromosome Banding; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D005320:Fetal Macrosomia / Q000175:diagnosis* / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics; D016142:Holoprosencephaly / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D017689:Polydactyly / Q000175:diagnosis* / Q000235:genetics; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics; D000073839:Trisomy 13 Syndrome; D016216:Ultrasonography, Prenatal