Introduction: A microduplication is a rare genetic condition which occurs when there is an extra piece of the chromosome, it is known as a chromosomal aberration. This can result in abnormalities in development, health and behaviour. The consequences may vary depending on how large the microduplication is. This case represents a child with a rare microduplication of the short arm of chromosome 5(5p13.2).
Materials and methods: A 7-year-old patient with multiple abnormalities: psychomotor and speech delay, intellectual disability (IQ 35), facial dysmorphism, brain anomalies (lateral ventricular dilatation, periventricular leukomalacia, retrocerebellar arachnoid cyst), ectopic anus with rectoperineal fistula, anomalies of the scapula and thoracolumbar scoliosis. Based on the clinical manifestations a polymalformative syndrome was discussed and the child was referred for genetic counselling. Several genetic investigations have been performed: pedigree analysis, cytogenetic analysis of peripheral blood lymphocytes, Multiplex-Ligation-dependent Probe Amplification (MLPA) for the most common microdeletion/microduplication syndromes and microarray-based Comparative Genomic Hybridization (CGH-array).
Results: The pedigree method revealed positive family history - slight facial dysmorphism in four of the patient´s relatives. Conventional cytogenetic testing presented a normal female karyotype - 46, XX. The result of the MLPA showed no abnormalities. The subsequent CGH-array revealed a microduplication with unclear clinical significance - (5p13.2) x 3). In DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources) database have been reported only 4 patients with this kind of microduplication with intellectual disability, autism and behavioural problems. It was supposed that this polymalformative syndrome may be due to a mutation in one or several genes and there was a recommendation for another genetic testing - targeted exome sequencing.
Conclusion: This case presents the difficulties in the diagnostic process of a child with multiple congenital anomalies. Performing a variety of genetic studies is aimed at accurate diagnosis and adequate genetic counselling.
