Pseudotrisomy 13: clinical findings and genetic implications.
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.
Schulz
Solveig
S
Institute of Human Genetics, Otto-von-Guericke University, Magdeburg, Germany. solveig.schulz@medizin.uni-magdeburg.de
Gerloff
Claudia
C
Kalinski
Thomas
T
Mawrin
Christian
C
Kanakis
Dimitrios
D
Haas
Dorothea
D
Hahn
Heidi
H
Wieacker
Peter
P
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