[Trisomy 4p as result of a maternal translocation t(4;8)(q11;p23)]

M Stumm; M Reuter; U Mandon; R Brückner; P Wieacker

doi:10.1055/s-2008-1043760

[Trisomy 4p as result of a maternal translocation t(4;8)(q11;p23)]

Klin Padiatr. 1999 Jan-Feb;211(1):35-9. doi: 10.1055/s-2008-1043760.

[Article in German]

Authors

M Stumm¹, M Reuter, U Mandon, R Brückner, P Wieacker

Affiliation

¹ Institut für Humangenetik des Universitätsklinikums Magdeburg.

PMID: 10067217
DOI: 10.1055/s-2008-1043760

Abstract

We report on a 21 month old boy with congenital anomalies and a trisomy of the short arm of chromosome 4 as result of a maternal translocation 4/8 with meiotic 3:1 segregation. Karyotype/phenotype correlation is compared with other reported cases and discussed in a context of nearly pure trisomy 4p.

Publication types

Case Reports
English Abstract
Review

MeSH terms

Chromosome Segregation / genetics
Chromosomes, Human, Pair 4 / genetics*
Chromosomes, Human, Pair 8 / genetics*
Foot Deformities, Congenital / diagnosis
Foot Deformities, Congenital / genetics
Humans
Infant
Karyotyping
Male
Translocation, Genetic / genetics*
Trisomy / diagnosis*
Trisomy / genetics*