Nikolaos Vrachnis1,2,3, Ioannis Papoulidis4, Dionysios Vrachnis5, Elisavet Siomou4, Nikolaos Antonakopoulos6,7, Stavroula Oikonomou8, Dimitrios Zygouris7, Nikolaos Loukas9, Zoi Iliodromiti10, Efterpi Pavlidou11, Loretta Thomaidis8, Emmanouil Manolakos4. 1. Third Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens, Medical School, Attikon Hospital, Athens, GR, Greece. nvrachnis@hotmail.com. 2. Research Centre in Obstetrics and Gynecology, HSOGE, Athens, Greece. nvrachnis@hotmail.com. 3. Vascular Biology, Molecular and Clinical Sciences Research Institute, St George's University of London, London, UK. nvrachnis@hotmail.com. 4. Access To Genome P.C., Clinical Laboratory Genetics, Athens-Thessaloniki, Greece. 5. Department of Clinical Therapeutics, National and Kapodistrian University of Athens, Medical School, Alexandra Hospital, Athens, Greece. 6. Third Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens, Medical School, Attikon Hospital, Athens, GR, Greece. 7. Research Centre in Obstetrics and Gynecology, HSOGE, Athens, Greece. 8. Second Department of Pediatrics, Aglaia Kyriakou Hospital, Medical School, National & Kapodistrian University of Athens, Athens, Greece. 9. Department of Gynecology, General Hospital of Athens "G. Gennimatas", Athens, Greece. 10. Neonatal Department, National and Kapodistrian University of Athens Medical School, Aretaieio Hospital, Athens, Greece. 11. Department of Pediatrics, School of Medicine, Aristotle University of Thessaloniki, University General Hospital AHEPA, Thessaloniki, Greece.
Abstract
BACKGROUND: The interstitial 6p22.3 deletions concern rare chromosomal events affecting numerous aspects of both physical and mental development. The syndrome is characterized by partial deletion of chromosome 6, which may arise in a number of ways. CASE PRESENTATION: We report a 2.8-year old boy presenting with developmental delay and mild dysmorphisms. High-resolution oligonucleotide microarray analysis revealed with high precision a 2.5 Mb interstitial 6p deletion in the 6p22.3 region which encompasses 13 genes. CONCLUSIONS: Identification and in-depth analysis of cases presenting with mild features of the syndrome will sharpen our understanding of the genetic spectrum of the 6p22.3 deletion.
BACKGROUND: The interstitial 6p22.3 deletions concern rare chromosomal events affecting numerous aspects of both physical and mental development. The syndrome is characterized by partial deletion of chromosome 6, which may arise in a number of ways. CASE PRESENTATION: We report a 2.8-year old boy presenting with developmental delay and mild dysmorphisms. High-resolution oligonucleotide microarray analysis revealed with high precision a 2.5 Mb interstitial 6p deletion in the 6p22.3 region which encompasses 13 genes. CONCLUSIONS: Identification and in-depth analysis of cases presenting with mild features of the syndrome will sharpen our understanding of the genetic spectrum of the 6p22.3 deletion.
Authors: A F Davies; G Mirza; G Sekhon; P Turnpenny; F Leroy; F Speleman; C Law; N van Regemorter; E Vamos; F Flinter; J Ragoussis Journal: Hum Genet Date: 1999-01 Impact factor: 4.132
Authors: Birgit Zirn; Maja Hempel; Andreas Hahn; Bernd Neubauer; Janine Wagenstaller; Núria Rivera-Bruguès; Tim Matthias Strom; Angelika Köhler Journal: Am J Med Genet A Date: 2008-11-15 Impact factor: 2.802
Authors: A F Davies; M G Olavesen; R J Stephens; R Davidson; D Delneste; N Van Regemorter; E Vamos; F Flinter; I Abusaad; J Ragoussis Journal: Hum Genet Date: 1996-10 Impact factor: 4.132