title: Pseudotrisomy 13: clinical findings and genetic implications.
abstract: The combination of holoprosencephaly, postaxial polydactyly, and normal karyotype has been termed pseudotrisomy 13 syndrome. Here, we report the prenatal diagnosis of pseudotrisomy 13 in three siblings suggesting autosomal recessive inheritance of this syndrome. Clinical overlap with hydrolethalus syndrome, Smith-Lemli-Opitz syndrome, Meckel syndrome, and Pallister-Hall syndrome is discussed.
authors.affiliation: Institute of Human Genetics, Otto-von-Guericke University, Magdeburg, Germany. solveig.schulz@medizin.uni-magdeburg.de
authors.forename: Solveig
authors.initials: S
authors.lastname: Schulz
authors.forename: Claudia
authors.initials: C
authors.lastname: Gerloff
authors.forename: Thomas
authors.initials: T
authors.lastname: Kalinski
authors.forename: Christian
authors.initials: C
authors.lastname: Mawrin
authors.forename: Dimitrios
authors.initials: D
authors.lastname: Kanakis
authors.forename: Dorothea
authors.initials: D
authors.lastname: Haas
authors.forename: Heidi
authors.initials: H
authors.lastname: Hahn
authors.forename: Peter
authors.initials: P
authors.lastname: Wieacker
mesh_terms: D004171:Diploidy; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D016142:Holoprosencephaly / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D017689:Polydactyly / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D016216:Ultrasonography, Prenatal