Autor: Ozturk, M., Habiloglu, E., Polat, B. G., Yılmaz, H. I., Dogan, M., Sezer, A.
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Founder derivative chromosome causing a recessive-like recurrent disorder: der(17)-associated 19p13.3 duplication in the Upper Tigris Basin
WHAT IS ALREADY KNOWN ON THIS TOPICProximal 19p13.3 microduplication syndrome is a rare neurodevelopmental disorder characterised by developmental delay, intellectual disability, growth impairment and facial dysmorphism. However, recurrent der(17)-asso…