A clinical case of adult diagnosis of microduplication syndrome of chromosome 15 at site 15q11.2

Abstract

The 15q11.2 microduplication syndrome is a rare genetic disease caused by the duplication of a small segment of the genetic material of the chromosome 15, to date it remains unknown to the physicians. The aim of the study was to compile an algorithm for diagnosing 15q11.2 microduplication syndrome in adults and differentiating it from a phenotypically similar genetically determined condition (Prader-Willi syndrome). Materials and methods – a clinical case of 15q11.2 microduplication syndrome with mild clinical course was described; neurological, clinical and psychopathological examination was performed, functional diagnostic methods were used. The described clinical case of a relatively mild clinical course of the 15q11.2 microduplication syndrome and its diagnosis in adulthood indicates a significant phenotypic variability of this phenomenon. This study demonstrates the coincidence of clinical manifestations present in the patient with the currently described symptoms of microduplication of a fragment of the fifteenth chromosome 15q11.2. The results of molecular genetic study with the detection of duplication at the 15q11.2 locus (by STR marker D15S817) are unquestionable confirmations of this syndrome.