title: Down syndrome with unusual familial translocation (1;21). A case report.
abstract: A case of t (1;21) in a 9-year-old female Down syndrome patient is reported. Her karyotype was 47,XX, t (1;21) (mat), +21. The father's karyotype was normal, while that of the mother was 46, XX, t (1;21). An amniotic fluid cell culture revealed a trisomy 21 and a t (1;21) in a male fetus. This is the first report of a familial case of trisomy 21 with t (1;21) from our country.
authors.affiliation: Department of Anatomy, St John's Medical College, Bangalore, India.
authors.forename: R
authors.initials: R
authors.lastname: Sayee
authors.forename: I M
authors.initials: IM
authors.lastname: Thomas
mesh_terms: D002648:Child; D004314:Down Syndrome / Q000235:genetics*; D005190:Family; D005260:Female; D006801:Humans; D007621:Karyotyping; D010375:Pedigree; D010641:Phenotype; D014178:Translocation, Genetic