Interchange trisomy 9 due to maternal t(6; 9) translocation

The occurrence of interchange trisomy due to a 3:1 malsegregation has been documented in only a few cases with trisomy 21. We describe the first case of interchange trisomy 9 due to a maternal t(6; 9) translocation. The patient, a boy neonate who died immediately after birth, had intra-uterine growth retardation, specific craniofacial features including microcephaly with a high forehead, low-set ears, upslanting short palpebral fissures, microphthalmia, bulbous nose and micrognathia, cryptorchidism, cystic kidney and various skeletal anomalies. His phenotype was consistent with that of the trisomy 9 syndrome. Cytogenetic analysis showed his karyotype of 47,XY,-6, + der(6), + der(9)t(6; 9)(q27;q21.1)mat. The present report indicates that a very rare interchange mode of a 3:1 segregation can give rise to a live birth with full trisomy 9 in female carriers with reciprocal translocations involving the proximal long arm of chromosome 9.