Pseudotrisomy 13 and autosomal recessive holoprosencephaly.
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.
Seller
M J
MJ
South East Thames Regional Genetics Centre, Guy's Hospital, London, UK.
Chitty
L S
LS
Dunbar
H
H
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