Pseudotrisomy 13 syndrome in siblings.
We describe a brother and sister who both had holoprosencephaly, polydactyly, cardiac lesions and a normal karyotype. The parents were first cousins and a diagnosis of pseudotrisomy 13 syndrome is suggested. This report provides further support that the inheritance of pseudotrisomy 13 syndrome is autosomal recessive.
Amor
D J
DJ
Victorian Clinical Genetics Service, Royal Children's Hospital, Parkville, Australia. amord@cryptic.rch.unimelb.edu.au
Woods
C G
CG
D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002882:Chromosomes, Human, Pair 13; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D005313:Fetal Death; D005808:Genes, Recessive; D016142:Holoprosencephaly / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009679:Nuclear Family; D017689:Polydactyly / Q000235:genetics; D014314:Trisomy / Q000235:genetics*