"Pure" monosomy 21 pter leads to q21 in a girl born to a couple 46,XX,t(14;21)(p12;q22) and 46,XY,t(5;18)(q32;q22).
A two-year-old girl with a "pure" 21pter leads to q21 monosomy secondary to a 3:1 segregation of a maternal translocation t(14;21)(p12;q22) is described. The father's karyotype was 46,XY,t(5;18)(q32;q22). This observation permits to further delineate the 21q proximal monosomy syndrome and to comment the very rare finding of a couple in which both partners have different reciprocal translocations.
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D000782:Aneuploidy; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D002901:Chromosomes, Human, 13-15 / Q000648:ultrastructure*; D002902:Chromosomes, Human, 16-18 / Q000648:ultrastructure*; D002904:Chromosomes, Human, 21-22 and Y / Q000648:ultrastructure*; D002905:Chromosomes, Human, 4-5 / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D013577:Syndrome; D014178:Translocation, Genetic