Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

@article{ShawSmith2006MicrodeletionEM,
  title={Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability},
  author={C. Shaw-Smith and A. Pittman and L. Willatt and H. Martin and L. Rickman and S. Gribble and R. Curley and S. Cumming and C. Dunn and D. Kalaitzopoulos and K. Porter and E. Prigmore and A. C. Krepischi-Santos and M. Varela and C. Koiffmann and A. Lees and C. Rosenberg and H. Firth and R. Silva and N. Carter},
  journal={Nature Genetics},
  year={2006},
  volume={38},
  pages={1032-1037}
}
  • C. Shaw-Smith, A. Pittman, +17 authors N. Carter
  • Published 2006
  • Biology, Medicine
  • Nature Genetics
    • Recently, the application of array-based comparative genomic hybridization (array CGH) has improved rates of detection of chromosomal imbalances in individuals with mental retardation and dysmorphic features. Here, we describe three individuals with learning disability and a heterozygous deletion at chromosome 17q21.3, detected in each case by array CGH. FISH analysis demonstrated that the deletions occurred as de novo events in each individual and were between 500 kb and 650 kb in size. A… CONTINUE READING
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