Chromosomal Microarray for the Diagnosis and Management of Pediatric Patients

Research output: Other contributionpeer-review


Chromosomal microarray (CMA) has considerably advanced the identification of structural genomic variation, replacing Giesma banded (G-banded) karyotype in clinical practice for the investigation of a variety of phenotypes. The increased resolution has led to the identification of several common copy number variants (CNVs) associated with congenital anomalies and neurodevelopmental disabilities. Reciprocal CNVs at 1q21.1, 3q29, 15q11.2, 15q13.3, 16p11.2, 16p13.11, 17q12 and 22q11.2 are the most common loci implicated. The identification of these CNVs primarily has implications for genetic counseling including reproductive management. However, a small number of specific medical issues can be managed differently as a result of identifying these variants. This article discusses the yield of investigation with CMA, as well as general and specific management implications for these common variants.
Original languageEnglish
PublisherWiley Health Learning
Number of pages8
Place of PublicationOnline
Publication statusPublished - 2016
Externally publishedYes

Publication series

NameWiley: Reviews


  • CMA
  • intellectual disability
  • microarray
  • congenital anomalies
  • neurodevelopmental disability
  • copy number variants
  • genetic counseling
  • management


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