PMID- 27137828
OWN - NLM
STAT- MEDLINE
DCOM- 20160721
LR  - 20160504
IS  - 1426-9686 (Print)
IS  - 1426-9686 (Linking)
VI  - 40
IP  - 238
DP  - 2016 Apr
TI  - [17p13.3 duplication as a cause of psychomotor developmental delay in an infant - 
      a further case of a new syndrome].
PG  - 255-9
AB  - 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.
CI  - (c) 2016 MEDPRESS.
FAU - Przybylska-Kruszewska, Amanda
AU  - Przybylska-Kruszewska A
AD  - Institute of Mother and Child in Warsaw, Poland: Department of Pediatrics.
FAU - Kutkowska-Kazmierczak, Anna
AU  - Kutkowska-Kazmierczak A
AD  - Institute of Mother and Child in Warsaw, Poland: Department of Medical Genetics.
FAU - Krzywdzinska, Amanda
AU  - Krzywdzinska A
AD  - Institute of Mother and Child in Warsaw, Poland: Department of Pediatrics.
FAU - Smyk, Marta
AU  - Smyk M
AD  - Institute of Mother and Child in Warsaw, Poland: Department of Medical Genetics.
FAU - Nowakowska, Beata
AU  - Nowakowska B
AD  - Institute of Mother and Child in Warsaw, Poland: Department of Medical Genetics.
FAU - Gryglicka, Halina
AU  - Gryglicka H
AD  - Institute of Mother and Child in Warsaw, Poland: Department of Pediatrics.
FAU - Obersztyn, Ewa
AU  - Obersztyn E
AD  - Institute of Mother and Child in Warsaw, Poland: Department of Medical Genetics.
FAU - Hozyasz, Kamil K
AU  - Hozyasz KK
AD  - Institute of Mother and Child in Warsaw, Poland: Department of Pediatrics.
LA  - pol
PT  - Case Reports
PT  - English Abstract
PT  - Journal Article
TT  - Duplikacja 17p13.3 jako przyczyna opoznionego rozwoju psychoruchowego u 
      niemowlecia - opis kolejnego przypadku nowego zespolu.
PL  - Poland
TA  - Pol Merkur Lekarski
JT  - Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego
JID - 9705469
RN  - Chromosome 17p13.3 Duplication Syndrome
SB  - IM
MH  - Abnormalities, Multiple/diagnosis/genetics
MH  - Chromosome Disorders/diagnosis/genetics
MH  - Chromosome Duplication/genetics
MH  - Comparative Genomic Hybridization
MH  - Developmental Disabilities/diagnosis/genetics
MH  - Face/abnormalities
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Muscle Hypotonia/*genetics
MH  - Nervous System Malformations/diagnosis/*genetics
MH  - Psychomotor Disorders/diagnosis/*genetics
MH  - Syndrome
OTO - NOTNLM
OT  - 17p13.3 duplication
OT  - aCGH
OT  - chromosomal aberrations
OT  - psychomotor delay
EDAT- 2016/05/04 06:00
MHDA- 2016/07/22 06:00
CRDT- 2016/05/04 06:00
PHST- 2016/05/04 06:00 [entrez]
PHST- 2016/05/04 06:00 [pubmed]
PHST- 2016/07/22 06:00 [medline]
AID - PML238-255 [pii]
PST - ppublish
SO  - Pol Merkur Lekarski. 2016 Apr;40(238):255-9.