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Clinical and Molecular Cytogenetic Characterisation of Children with Developmental Delay and Dysmorphic Features / Klinična in Molekularna Citogenetska Obravnava Otrok Z Razvojnim Zaostankom in Displastičnimi Znaki

Authors :
Bertok, Sara
Žerjav Tanšek, Mojca
Kotnik, Primož
Battelino, Tadej
Volk, Marija
Pecile, Vanna
Cleva, Lisa
Gasparini, Paolo
Kovač, Jernej
Hovnik, Tinka
Source :
Slovenian Journal of Public Health; March 2015, Vol. 54 Issue: 2 p69-73, 5p
Publication Year :
2015

Abstract

Introduction. Developmental delay and dysmorphic features affect 1 - 3 % of paediatric population. In the last few years molecular cytogenetic high resolution techniques (comparative genomic hybridization arrays and single-nucleotide polymorphism arrays) have been proven to be a first-tier choice for clinical diagnostics of developmental delay and dysmorphic features.

Details

Language :
English
ISSN :
03510026 and 18542476
Volume :
54
Issue :
2
Database :
Supplemental Index
Journal :
Slovenian Journal of Public Health
Publication Type :
Periodical
Accession number :
ejs35221799
Full Text :
https://doi.org/10.1515/sjph-2015-0010