A case with ins(22;?)(pter→q11.2::?::q11.2→qter) karyotype

In this study a woman that carried a familial ins (22;?) chromosome, applying to our laboratory with the aim of cytogenetic analysis after having two miscarriages and her mother who is also carrier of the same entity were investigated. preparations obtained from the patient and her relatives by method of peripheric blood culture was banded by trypsin giemsa banding (gtg) method after making her pedigree. the case had two miscarriages of two twins pregnancies that realized by the method of in vitro fertilisation, before application to our laboratory. the abortion sample taken from her second miscarriage, was investigated cytogenetically. cytogenetic investigation showed 46,xx, ins(22;?)(pter→q11.2::?::q11.2→qter) karyotype in second miscarriage. the cytogenetic analyses of the case and her mother showed the same karyotype that was found in abortion sample. in this report, we discussed relationship between clinical findings and abortions of the case who carries ins(22;?)(pter→q11.2::?::q11.2→qter) karyotype.