Normal Phenotype and Slight Mental Retardation in De Novo Distal 8p Deletion (8pter----8p23.1:)
Overview
Affiliations
In this report we present a 9-year-old boy with mental retardation, behavioural problems and terminal deletion of the short arm of chromosome 8(8pter----8p23.1:). In contrast with previously reported patients with larger terminal and interstitial 8p deletions he did not present major phenotypic abnormalities.
Wagner-Mahler K, Kurzenne J, Gastaud F, Hoflack M, Panaia Ferrari P, Berard E Mol Genet Genomic Med. 2019; 7(3):e558.
PMID: 30690934 PMC: 6418366. DOI: 10.1002/mgg3.558.
Longoni M, Lage K, Russell M, Loscertales M, Abdul-Rahman O, Baynam G Am J Med Genet A. 2012; 158A(12):3148-58.
PMID: 23165946 PMC: 3761361. DOI: 10.1002/ajmg.a.35665.
Genotype-phenotype association studies of chromosome 8p inverted duplication deletion syndrome.
Fisch G, Davis R, Youngblom J, Gregg J Behav Genet. 2011; 41(3):373-80.
PMID: 21259039 PMC: 4557779. DOI: 10.1007/s10519-011-9447-4.
Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.
Wat M, Shchelochkov O, Holder A, Breman A, Dagli A, Bacino C Am J Med Genet A. 2009; 149A(8):1661-77.
PMID: 19606479 PMC: 2765374. DOI: 10.1002/ajmg.a.32896.
Haj R, Jackson K, Torchia B, Shaffer L, Bejjani B, Gowans G Mol Cytogenet. 2009; 2:2.
PMID: 19128483 PMC: 2654037. DOI: 10.1186/1755-8166-2-2.