title: Pseudotrisomy 13 and autosomal recessive holoprosencephaly.
abstract: Two sibs, diagnosed prenatally, had holoprosencephaly, midface hypoplasia, and normal chromosomes. The first fetus also had polydactyly. This sibship may represent an example of autosomal recessive pseudotrisomy 13.
authors.affiliation: South East Thames Regional Genetics Centre, Guy's Hospital, London, UK.
authors.forename: M J
authors.initials: MJ
authors.lastname: Seller
authors.forename: L S
authors.initials: LS
authors.lastname: Chitty
authors.forename: H
authors.initials: H
authors.lastname: Dunbar
mesh_terms: D000015:Abnormalities, Multiple / Q000196:embryology / Q000235:genetics*; D000032:Abortion, Therapeutic; D000328:Adult; D002869:Chromosome Aberrations / Q000175:diagnosis; D025063:Chromosome Disorders; D002882:Chromosomes, Human, Pair 13; D003937:Diagnosis, Differential; D005260:Female; D005808:Genes, Recessive; D016142:Holoprosencephaly / Q000196:embryology / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009030:Mosaicism; D017689:Polydactyly / Q000235:genetics; D011247:Pregnancy; D012729:Sex Chromosome Aberrations / Q000235:genetics; D013577:Syndrome; D014314:Trisomy; D016216:Ultrasonography, Prenatal