Research Centre for Medical Genetics
1 Moskvorechye St,
Moscow 115522, Russian Federation
Mo-Fr: 9:00 - 17:00

Molecular Cytogenetics journal published an article by the Cytogenetics Laboratory researchers (N.V. Shilova, Dr.Med.Sc., head of the Laboratory).

Microduplication syndrome 17p13.3 (OMIM#613215) is a rare hereditary disease. Currently, only 13 patients with microduplication syndrome 17p13.3 have been registered. We present clinical and molecular cytogenetic characterization of another, new case of duplication of the p13.3p13.1 region of chromosome 17, identified by chromosome micro matrix analysis (CMA), in a patient with psycho-speech developmental delay and facial dysmorphisms. Application of the FISH method led us to the conclusion that the duplication was formed as a result of pathological meiotic segregation of maternal t(9;17).  The role of genomic imbalance in shaping the patient's clinical manifestations is discussed. Examination of the patient's parents is an important step in establishing the origin of DNA sites copy amount variations. Combination of CMA with FISH analysis allows not only the most complete characterization of the detected genomic imbalance and the mechanism of its formation, but also ensures adequate medical and genetic counseling of the family, taking into account the presence of a balanced chromosomal rearrangement in one of the parents.

Markova ZG, Minzhenkova ME, Bessonova LA, Shilova NV. A new case of 17p13.3p13.1 microduplication resulted from unbalanced translocation: clinical and molecular cytogenetic characterization. Mol Cytogenet. 2021 Aug 31;14(1):41.