Transmission of a t(13q22q) chromosome observed in three generations with segregation of the translocation D1-trisomy syndrome.
A case of an inherited type of D/G translocation D1-trisomy syndrome was described. A female proposita who had the clinical signs of D1-trisomy syndrome was found to have a chromosome complement of 46,XX,--G,+t(DqGq). examination of Q- and G-stained karyotypes revealed that the chromosomes involved in the translocation were members of Nos. 13 and 22, or t(13q22q) with breaks at p12 of both chromosomes. C-stained figures also showed a large heterochromatin block in its centromeric region. The t(13q22q) chromosome was transmitted from the paternal grandmother of the proposita through at least three generations.
D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations; D002901:Chromosomes, Human, 13-15; D002904:Chromosomes, Human, 21-22 and Y; D003878:Dermatoglyphics; D005260:Female; D006570:Heterochromatin / Q000032:analysis; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy
D006570:Heterochromatin