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Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children

By Cristina Cuoco, Patrizia Ronchetto, Stefania Gimelli, Frédérique Béna, Maria Teresa Divizia, Margherita Lerone, Marisol Mirabelli-Badenier, Monica Mascaretti and Giorgio Gimelli
Topics: Case Report
Publisher: BioMed Central
OAI identifier: oai:pubmedcentral.nih.gov:3090742
Provided by: PubMed Central

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  1. (2007). Blennow E: Distal 3p deletion syndrome: detailed molecular cytogenetic and clinical characterization of three small distal deletions and review.
  2. (1999). CALL gene is haploinsufficient in a 3p- syndrome patient.
  3. (2006). Chromosome 3p25 deletion in mother and daughter with minimal phenotypic effect.
  4. (2005). Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.
  5. (2006). E: Follow-up of an intelligent oddmannered teenager with del(3)(p26). Remarks on authorship and ethical commitment. Genet Couns
  6. (2010). EE: A recurrent 16p12.1 microdeletion supports a twohit model for severe developmental delay.
  7. (2008). EE: Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
  8. (2010). Eichler EE: Phenotypic variability and genetic susceptibility to genomic disorders. Hum Mol Genet
  9. (2009). ER: Microarray based analysis of 3p25-p26 deletions (3p- syndrome).
  10. (2006). FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions.
  11. (2006). Karyotype-phenotype analysis and molecular delineation of a 3p26 deletion/8q24.3 duplication case with a virtually normal phenotype and mild cognitive deficit.
  12. (1998). Lerman MI: In silico-initiated cloning and molecular characterization of a novel human member of the L1 gene family of neural cell adhesion molecules. Hum Genet
  13. (2007). Mundlos S: Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.
  14. (1995). Ng IS: Del(3)(p25.3) without phenotypic effect.
  15. (2003). of 6CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior. Hum Mol Genet
  16. (2009). Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.
  17. (2010). Terminal 3p deletions in two families–correlation between molecular karyotype and phenotype.
  18. (2008). Terminal 3p deletions: phenotypic variability, chromosomal non-penetrance, or gene modification?
  19. (2002). Thomas GH: Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome.