Abstract:

We report the cytogenetic analysis of a female patient who had been married for three years without pregnancy and her relatives. The karyotypes of the patient and the relatives were detected by peripheral blood cytogenetic analysis. The karyotypes of the patients were 45,XX,inv(2)(p23q21),der(14;22)(q10;q10), the father karyotype of the patient was 45,XY,der(14;22)(q10;q10), the karyotype of second sister was 45,XX,der(14;22)(q10; q10). Her mother, husband and eldest sister had normal karyotypes. The patient had both interbrachial inversion on chromosome 2 and Robertson translocation on chromosome 14 and chromosome 22, both of them may be the cause of infertility.

Key words: Chromosome inversion, Translocation, genetic, Infertility, female, Cytogenetic analysis, Case reports