Familial t (4;21)(q2.4;q2.2) leading to unbalanced offspring with partial duplication of 4q and of 21q without manifestations of the Down syndrome.
We report on an infant with a malformation syndrome who had a combination of partial duplication of 4q and 21q as the result of a maternal unbalanced translocation. She has duplication of the proximal portion of chromosome 21, without manifestation of the Down syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002904:Chromosomes, Human, 21-22 and Y; D002905:Chromosomes, Human, 4-5; D003965:Diaphragmatic Eventration / Q000235:genetics; D004314:Down Syndrome; D005260:Female; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D007420:Intestine, Large / Q000002:abnormalities; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure; D008831:Microcephaly / Q000235:genetics; D010375:Pedigree; D013348:Subclavian Artery / Q000002:abnormalities; D014178:Translocation, Genetic