A Case with de novo t (4;22) in Addition to Maternal inv 9

A 8- mounth- old gir! was referred to our laboratory because of Down Syndrome. She had had phenotypical features as mild mental retardation, flated nasal bridge, low- set and malformed ears. İn detailed family history, her mother had had an carbon monoxide poisoning during proband’s pregnancy and an abortus before her. Chromosome analysis was carried on peripheral blood lymphocytes culture, using standart technigues and chromosomes were identified by using GTG, C and NOR- banding. Her karyotype was foundjo be 46, XX, t (4q;22q), inv(9). Family studies were shovved that neither her mother nor her father had carried this translocation but inv(9) was inherited from her mother to our patient. Our patient who seems as though a de novo balanced translocation carrier was discussed under the light of literatüre with her biochemical, radiologic and clinic features.