De novo balanced 5;21 translocation in a child with acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardation.
An apparently balanced de novo reciprocal translocation t(5;21) (q13;q22) was demonstrated in a girl with acrobrachycephaly, ventriculomegaly, pulmonary stenosis and anal malformation. The possible relationships between her karyotype and malformations are discussed.
Hordnes
K
K
Department of Medical Genetics, Haukeland Hospital, Bergen, Norway.
Engebretsen
L F
LF
Knudtzon
J
J
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001003:Anal Canal; D002828:Choristoma; D002891:Chromosomes, Human, Pair 21; D002895:Chromosomes, Human, Pair 5; D003398:Craniosynostoses; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D008297:Male; D011666:Pulmonary Valve Stenosis; D014178:Translocation, Genetic