De novo balanced 5;21 translocation in a child with acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardation

K Hordnes; L F Engebretsen; J Knudtzon

doi:10.1111/j.1399-0004.1995.tb04118.x

De novo balanced 5;21 translocation in a child with acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardation

Clin Genet. 1995 Dec;48(6):321-3. doi: 10.1111/j.1399-0004.1995.tb04118.x.

Authors

K Hordnes¹, L F Engebretsen, J Knudtzon

Affiliation

¹ Department of Medical Genetics, Haukeland Hospital, Bergen, Norway.

PMID: 8835329
DOI: 10.1111/j.1399-0004.1995.tb04118.x

Abstract

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Adult
Anal Canal
Choristoma
Chromosomes, Human, Pair 21*
Chromosomes, Human, Pair 5*
Craniosynostoses
Female
Humans
Infant
Intellectual Disability
Male
Pulmonary Valve Stenosis
Translocation, Genetic*