Abstract
The 8p inverted duplication/deletion is a rare chromosomal rearrangement clinically featuring neurodevelopmental delay, mild to severe cognitive impairment, heart congenital defects and brain abnormalities. Patients affected also present typical facial dysmorphisms and skeletal malformations, and it is thought that the composite clinical picture may fall into the chromosomal rearrangement architecture. With the major aim of better framing its related clinical and diagnostic paths, we describe a patient carrying a de novo invdupde[8p] whose clinical features have not been described so far. Hence, through an extensive genotype-phenotype correlation analysis and by reviewing the dedicated scientific literature, we compared our patient's features with those reported in other patients, which allows us to place our proband's expressiveness in an intermediate area, widening the scope of the already known invdupde[8p] genotype-phenotype relationship.
References
Nov 20, 1995·American Journal of Medical Genetics·C E de Die-SmuldersJ P Fryns
Mar 26, 1999·American Journal of Human Genetics·K DevriendtJ R Vermeesch
Mar 7, 2001·American Journal of Human Genetics·S GiglioO Zuffardi
Aug 3, 2001·American Journal of Medical Genetics·Y S Fan, V M Siu
Sep 13, 2002·Pediatrics International : Official Journal of the Japan Pediatric Society·Kiminori MasudaKoichiro Miyata
Aug 16, 2003·Journal of Medical Genetics·J R VermeeschJ-P Fryns
Jun 24, 2004·American Journal of Medical Genetics. Part a·Osamu ShimokawaNaomichi Matsumoto
May 2, 2006·Journal of Medical Genetics·R CicconeO Zuffardi
Feb 28, 2008·American Journal of Medical Genetics. Part a·Susanna L CookeGopalrao V N Velagaleti
Dec 2, 2008·European Journal of Medical Genetics·Karen BuysseBjörn Menten
Sep 11, 2010·American Journal of Medical Genetics. Part a·Matthew HandKaren D Tsuchiya
Oct 1, 2010·Pediatrics International : Official Journal of the Japan Pediatric Society·Mehmet A ErgünE Ferda Perçin
Jan 25, 2011·Behavior Genetics·Gene S FischJeff Gregg
Feb 26, 2015·American Journal of Medical Genetics. Part a·Fe Amalia García-SantiagoPablo Lapunzina
Mar 15, 2015·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Maria PiccioneGiovanni Corsello
Jun 13, 2017·European Journal of Medical Genetics·Jeroen KnijnenburgLaura J C M van Zutven
Aug 15, 2018·Journal of Pediatric Genetics·Vivek KumarGaurav Kumar