Background: Patients with a microscopically visible deletion of the distal part of the long arm of chromosome 1 have a recognisable phenotype, including mental retardation, microcephaly, growth retardation, a distinct facial appearance and various midline defects including corpus callosum abnormalities, cardiac, gastro-oesophageal and urogenital defects, as well as various central nervous system anomalies. Patients with a submicroscopic, subtelomeric 1qter deletion have a similar phenotype, suggesting that the main phenotype of these patients is caused by haploinsufficiency of genes in this region.
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis / van Bon BW; Koolen DA; Borgatti R; Magee A; Garcia-Minaur S; Rooms L; Reardon W; Zollino M; Bonaglia MC; De Gregori M; Novara F; Grasso R; Ciccone R; van Duyvenvoorde HA; Aalbers AM; Guerrini R; Fazzi E; Nillesen WM; McCullough S; Kant SG; Marcelis CL; Pfundt R; de Leeuw N; Smeets D; Sistermans EA; Wit JM; Hamel BC; Brunner HG; Kooy F; Zuffardi O; de Vries BB.. - In: JOURNAL OF MEDICAL GENETICS. - ISSN 0022-2593. - STAMPA. - 45 (6):(2008), pp. 346-354. [10.1136/jmg.2007.055830]
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.
GUERRINI, RENZO;
2008
Abstract
Background: Patients with a microscopically visible deletion of the distal part of the long arm of chromosome 1 have a recognisable phenotype, including mental retardation, microcephaly, growth retardation, a distinct facial appearance and various midline defects including corpus callosum abnormalities, cardiac, gastro-oesophageal and urogenital defects, as well as various central nervous system anomalies. Patients with a submicroscopic, subtelomeric 1qter deletion have a similar phenotype, suggesting that the main phenotype of these patients is caused by haploinsufficiency of genes in this region.I documenti in FLORE sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.