A Case of Developmental Delay and Congenital Anomalies Associated with 1q42.12q44 Terminal Duplication and 7p22.3 Terminal Deletion

We report a child with a 1q42.12q44 terminal duplication and a 7p22.3 terminal deletion detected by chromosomal microarray. He presented with a history of feeding problems, poor weight gain, short stature, mild facial dysmorphic features, pes planus, horseshoe kidney, and mild congenital heart disease. Parental karyotyping showed that the mother was a balanced translocation carrier between chromosomes 1q and 7p, (46,XX,t(1;7)(q42.1;p22). This combination of chromosomal abnormalities has not been previously reported. The case is notable for its clinical features as well as a potential underlying mechanism of lowered chromosomal breakage and translocation of chromosome arms secondary to excess chromosomal fragile sites on 1q42 and 7p22.3.