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A child with rare microduplication 5p13.2

Eleonora Voynova, Lili Goguleva, Milena Stoyanova, Lyudmila Angelova


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.


microduplication; polymalformative syndrome; pedigree method



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