Clinical and molecular characterization of patients with 16p11.2 microdeletion syndrome

The study presents three cases of patients with deletions within 16p11.2 regions. Every child had characteristic craniofacial dysmorphic features and hand or feet abnormalities. The first proband had additionally obesity, epilepsy, moderate intellectual disability, aphasia, motor delay, hyperinsulinism and café au lait spots. The second proband suffered from cardiac, pulmonary and hematological problems. The third proband had motor delay, bronchial asthma and umbilical hernia. Although each patient presented characteristic features of the syndrome, children differed in clinical pictures among themselves. The genetic diagnosis of the 16p11.2 deletion syndrome was made in children at different age, based on the multiplex ligation probe-dependent amplification (MLPA) analysis and/or microarrays methods. This study highlights the impact of the size of deleted regions, as they may affect the clinical picture of patients with 16p11.2 microdeletion syndrome. Reported cases indicates the key role of the interdisciplinary approach in 16p11.2 microdeletion syndrome diagnostics, as the care of patients with this deletion is based on regular health assessment and adjustment of the nervous system development therapy In this study we report the cases of three patients with 16p11.2 microdeletions. Although every child had characteristic craniofacial and hand or feet dysmorphic features and presented motor or /and speech developmental delay, patients differed in clinical pictures among themselves. The multiplex ligation probe-dependent amplification (MLPA) analysis and microarray test were used to confirm the cytogenetic aspect of the diagnosis. All three patients had genomic imbalance within the critical region for this microdeletion