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Pol. Merkur. Lek (Pol. Med. J.), 2016, XL/238: 255-259 Maximize

Pol. Merkur. Lek (Pol. Med. J.), 2016, XL/238: 255-259

Title: 17p13.3 duplication as a cause of psychomotor developmental delay in an infant – a further case of a new syndrome 

Authors: Przybylska-Kruszewska A, Kutkowska-Kaźmierczak A, Krzywdzińska A, Smyk M, Nowakowska B, Gryglicka H, Obersztyn E, Hozyasz KK. 

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17p13.3 duplication as a cause of psychomotor developmental delay in an infant – a further case of a new syndrome


Przybylska-Kruszewska A1, Kutkowska-Kaźmierczak A2, Krzywdzińska A1, Smyk M2, Nowakowska B2, Gryglicka H1, Obersztyn E2, Hozyasz KK1.

Institute of Mother and Child in Warsaw, Poland: 1 Department of Pediatrics; 2 Department of Medical Genetics

17p13.3 duplication is a rare and heterogeneous genetic syndrome. Microdeletions of this region are responsible for the symptoms of Miller-Dieker syndrome. We present a case of 17p13.3 duplication consisting of about 730kb in a patient with psychomotor developmental delay, concerning eye-hand coordination, posture, locomotion and speech. Among other symptoms, we found excessive physical development in relation to age, hypotonia, dysmorphic facial features (high and prominent forehead, low-set ears, hypertelorism, short nose, small upturned nose, narrow lips and pointed chin) and discrete changes in the CNS – enhanced frontal horns of the lateral ventricles and quite narrow corpus callosum. These symptoms overlap with phenotype of previously described patients with 17p13.3 duplication. The aberration has been identified by array comparative genomic hybridization (aCGH) and confirmed by fluorescence in situ hybridization (FISH). This publication presents a detailed, comparative characteristic of clinical fetures expression in discussed patient with 17p13.3 duplication and patients previously described in medical literature. Further cases with different variants of 17p13.3 duplication may contribute to characterise the specific genotypephenotype correlation.

Key words: 17p13.3 duplication, chromosomal aberrations, psychomotor delay, aCGH

Pol Med J, 2016; XL (238); 255–259