22q11.2 Microduplication in a patient with 19p13.12-13.13 deletion

•A girl with 22q11.2 duplication and 19p13.12-19p13.13 deletion was reported.•She presented with craniofacial, cardiovascular and neuromuscular anomalies.•The genomic imbalances may contribute to the complicated features of the girl.

BackgroundThe chromosome 22q11.2 region microduplication has been described in patients with variable phenotypes. Here we present a 3-month-old girl with both 22q11.2 microduplication and 19p13.12-13.13 deletion. The presence of both genomic imbalances in one patient has not been previously reported in literature.MethodsA routine G-banding karyotype analysis was performed using peripheral lymphocytes. Chromosome microarray analysis (CMA) was done using Affymetrix CytoScan™ HD array.ResultsThe result of karyotyping showed that the patient is 46,XX,t(12;19)(q24.3;p13.1), but CMA detected a 2.8 Mb microduplication within the region 22q11.2 (chr22: 18,648,866-21,465,659) and a 1.2 Mb deletion on the chromosome 19at band p13.12-p13.13 (chr19: 13,107,938-14,337,347) in her genome, while no abnormalities were identified on 12q24.3. The 3-month-old girl presented with microcephaly, cleft palate, low set and retroverted ears, and facial dysmorphism which consisted of the following: a long narrow face, widely spaced eyes, downslanting palpebral fissures, broad nasal base, short philtrum, thin upper lip, and micro/retrognathia. She also had a congenital right pulmonary artery sling and tracheal stenosis and suffered from significant hypotonia and partial bilateral mixed hearing loss.ConclusionsWe report a case of 22q11.2 duplication syndrome with 19p13.12-13.13 deletion. Synergistic effect from the two genomic imbalances is likely responsible for the complicated clinical features observed in this patient.