Chromosome microarray in Australia: a guide for paediatricians.

Abstract:

:Chromosomal microarray or molecular karyotype has become the first-line genetic investigation for children with intellectual disability, autistic spectrum disorder or multiple congenital anomalies. Chromosomal microarray increases the detection rate of pathogenic chromosome imbalances including submicroscopic deletions or duplications in patients with undiagnosed intellectual disability to approximately 15% compared with 3% with conventional cytogenetics. This review article summarises the diagnostic technique and highlights the advantages and limitations of chromosomal microarray. Our aim is to assist clinicians in providing pretest counselling and with interpretation of the result.

authors

Palmer EE,Peters GB,Mowat D

doi

10.1111/j.1440-1754.2011.02081.x

subject

Has Abstract

pub_date

2012-02-01 00:00:00

pages

E59-67

issue

2

eissn

1034-4810

issn

1440-1754

journal_volume

48

pub_type

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