title: [17p13.3 duplication as a cause of psychomotor developmental delay in an infant - a further case of a new syndrome].
abstract: 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.
authors.affiliation: Institute of Mother and Child in Warsaw, Poland: Department of Pediatrics.
authors.forename: Amanda
authors.initials: A
authors.lastname: Przybylska-Kruszewska
authors.affiliation: Institute of Mother and Child in Warsaw, Poland: Department of Medical Genetics.
authors.forename: Anna
authors.initials: A
authors.lastname: Kutkowska-Kaźmierczak
authors.affiliation: Institute of Mother and Child in Warsaw, Poland: Department of Pediatrics.
authors.forename: Amanda
authors.initials: A
authors.lastname: Krzywdzińska
authors.affiliation: Institute of Mother and Child in Warsaw, Poland: Department of Medical Genetics.
authors.forename: Marta
authors.initials: M
authors.lastname: Smyk
authors.affiliation: Institute of Mother and Child in Warsaw, Poland: Department of Medical Genetics.
authors.forename: Beata
authors.initials: B
authors.lastname: Nowakowska
authors.affiliation: Institute of Mother and Child in Warsaw, Poland: Department of Pediatrics.
authors.forename: Halina
authors.initials: H
authors.lastname: Gryglicka
authors.affiliation: Institute of Mother and Child in Warsaw, Poland: Department of Medical Genetics.
authors.forename: Ewa
authors.initials: E
authors.lastname: Obersztyn
authors.affiliation: Institute of Mother and Child in Warsaw, Poland: Department of Pediatrics.
authors.forename: Kamil K
authors.initials: KK
authors.lastname: Hozyasz
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics; D058674:Chromosome Duplication / Q000235:genetics; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D009123:Muscle Hypotonia / Q000235:genetics*; D009421:Nervous System Malformations / Q000175:diagnosis / Q000235:genetics*; D011596:Psychomotor Disorders / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome
keywords: 17p13.3 duplication; aCGH; chromosomal aberrations; psychomotor delay