title: Partial trisomy 18 in a family with a translocation (18;21)(q21;q22).
abstract: A family is described in which 2 sibs had similar congenital abnormalities. Chromosome investigation of the mother and another child disclosed they were carriers of a translocation t(18;21)(q21;q22). The karyotype of one of the abnormal infants was determined and was found to be consistent with partial trisomy 18,46,XY,-21,+der (21),t(18;21) ((18pter leads to 18q21::21q22 leads to 2 lqter)mat.
mesh_terms: D000293:Adolescent; D002902:Chromosomes, Human, 16-18; D002904:Chromosomes, Human, 21-22 and Y; D003878:Dermatoglyphics; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome; D014178:Translocation, Genetic; D014314:Trisomy