Combined trisomy 9p and Shprintzen syndrome resulting from a paternal t(9;22)

The authors report on a female infant with partial trisomy 9 (pter --> q12) together with partial monosomy 22 (pter --> q11.23) that included DiGeorge critical region (DGCR), as a result of adjacent-2 disjunction. In addition to the clinical features characteristic of trisomy 9p syndrome, the patien t had Truncus arteriosus type A2, bilateral hydronephrosis, palatal anomaly , retrognathia, and laryngeal hypotonia, which are likely to be attributed to 22q11.2 deletion. This patient appears to be the first reported case wit h such unbalanced translocation resulting from a paternal reciprocal transl ocation. For live birth, the risk for male carrier is 8.7-17.4 %. It is imp ortant to consider this higher risk when counseling. Precise study concerni ng the presence of the DGCR can facilitate in the better understanding of t he condition.