1Q DUPLİKASYON SENDROM: NADİR BİR OLGU

Year 2009, Volume: 10 Issue: 1, 29 - 31, 01.04.2009

Aysegül Bükülmez Resit Köken Hamide Melek A. Sibel Tugral Mustafa Solak

Abstract

Birinci kromozomun uzun kolundaki anormallikler hem yapısal genetik bozukluklarla hem de neoplastikhastalıklarla ilişkili bulunmuştur. Parsiyel trizomi 1q nadir gözlenir. Birinci kromozomun uzun kolundakianormallikler hem yapısal genetik bozukluklarla hem de neoplastik hastalıklarla ilişkili bulunmuştur. 1.kromozomun uzun kolundaki anormallikler yapısal yeniden düzenlenme, çeşitli delesyonlar ve etkilenenkromozom kolunun yada bölgesinin aşırı amplifikasyonu ile karakterize olabilir Kromozom 1q duplikasyonuçok sayıda visseral organ anomolisi, dismorfik özellikler ve psikomotor retardasyon ile birliktedir Bizdoğumunun 3. gününde beslenme intoleransı ve parmak anomolileri nedeni ile sevk edilen ve çok sayıdadismorfik özellikler ile birlikte eksploratif laparotomide intestinal malrotasyon saptanan 1q duplikasyonuolgusunu bildirdik

Keywords

1q duplikasyonu, yenidoğan, dismorfik özellikler

Chromosome 1q Duplication Syndrome: A Rarely Case

Abstract

The abnormalities on the long arm of first chromosome are described as related with both structural genetical deformities and neoplastic diseases. Partially trisomia 1q is rarely seen. Chromosome 1q duplication is accompanied by visseral organ anomalies, dismorphical findings and phsycomotor retardation. In this letter we report a case with 1q duplication, who was accepted to the clinic with feeding intoleranse, finger deformities and multipl dysmorphical findings and an intestinal malrotation observed by explorative laparotomia.

Keywords

1q duplication, newborn, dysmorphic featuresed

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