Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region
Open Access
- 1 January 2012
- journal article
- Published by Springer Nature in Molecular Cytogenetics
- Vol. 5 (1) , 25
Abstract
Standard cytogenetic analysis has revealed to date more than 30 reported cases presenting interstitial deletions involving region 2q31-q32, but with poorly defined breakpoints. After the postulation of 2q31.2q32.3 deletion as a clinically recognizable disorder, more patients were reported with a critical region proposed and candidate genes pointed out.Keywords
This publication has 24 references indexed in Scilit:
- Characterising and Predicting Haploinsufficiency in the Human GenomePLOS Genetics, 2010
- The refinement of the critical region for the 2q31.2q32.3 deletion syndrome indicates candidate genes for mental retardation and speech impairmentAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2010
- The use of array-CGH in a cohort of Greek children with developmental delayMolecular Cytogenetics, 2010
- MLPA for confirmation of array CGH results and determination of inheritanceMolecular Cytogenetics, 2010
- Ectodermal dysplasia‐like syndrome with mental retardation due to contiguous gene deletion: Further clinical and molecular delineation of del(2q32) syndromeAmerican Journal of Medical Genetics Part A, 2009
- Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndromeEuropean Journal of Human Genetics, 2009
- A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardationNature Genetics, 2009
- Association of the α4 integrin subunit gene (ITGA4) with autismAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2009
- Clinical and molecular characterization of a patient with a 2q31.2‐32.3 deletion identified by array‐CGHAmerican Journal of Medical Genetics Part A, 2007
- Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardationJournal of Medical Genetics, 2002