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


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2006-09

AUTHORS

Charles Shaw-Smith, Alan M Pittman, Lionel Willatt, Howard Martin, Lisa Rickman, Susan Gribble, Rebecca Curley, Sally Cumming, Carolyn Dunn, Dimitrios Kalaitzopoulos, Keith Porter, Elena Prigmore, Ana C V Krepischi-Santos, Monica C Varela, Celia P Koiffmann, Andrew J Lees, Carla Rosenberg, Helen V Firth, Rohan de Silva, Nigel P Carter

ABSTRACT

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 recently described 900-kb inversion that suppresses recombination between ancestral H1 and H2 haplotypes encompasses the deletion. We show that, in each trio, the parent of origin of the deleted chromosome 17 carries at least one H2 chromosome. This region of 17q21.3 shows complex genomic architecture with well-described low-copy repeats (LCRs). The orientation of LCRs flanking the deleted segment in inversion heterozygotes is likely to facilitate the generation of this microdeletion by means of non-allelic homologous recombination. More... »

PAGES

1032-1037

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng1858

DOI

http://dx.doi.org/10.1038/ng1858

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1041756292

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/16906163


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