Can I read Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features on EtoBox?

Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features by Swaroop Aradhya; Melanie A. Manning; Alessandra Splendore; Athena M. Cherry is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features about?

## Abstract Cytogenetic imbalances are the most frequently identified cause of developmental delay or mental retardation, which affect 1–3% of children and are often seen in conjunction with growth retardation, dysmorphic features, and various congenital anomalies. A substantial number of patients with developmental delay or mental retardation are predicted to have cytogenetic imbalances, but conventional methods for identifying these imbalances yield positive results in only a small fraction of these patients. We used microarray‐based comparative genomic hybridization (aCGH) to study a panel of 20 patients predicted to have chromosomal aberrations based on clinical presentation of developmental delay or mental retardation, growth delay, dysmorphic features, and/or congenital anomalies. Previous G‐banded karyotypes and fluorescence in situ hybridization results were normal for all of these patients. Using both oligonucleotide‐based and bacterial artificial chromosome (BAC)‐based arrays on the same panel of patients, we identified 10 unique deletions and duplications ranging in size from 280 kb to 8.3 Mb. The whole‐genome oligonucleotide arrays identified nearly twice as many imbala

Who reads Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features?

Author

Swaroop Aradhya; Melanie A. Manning; Alessandra Splendore; Athena M. Cherry

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 1552-4825)

Published

2007

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)