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Why should I read this?
Array comparative genomic hybridisation (CGH), a new cytogenetic technology, is a new diagnostic tool for genetic disorders.
A 2-year-old girl was seen in clinic because of concerns regarding her development. Her parents say that she has always been a bit floppy and had difficulties feeding as a baby. She is not yet walking, but bottom-shuffles. She has no recognisable words. In clinic, she has a happy disposition and is hypotonic.
The child had previously had a karyotype which was normal. Array CGH revealed a microdeletion of the long arm of chromosome 17 (17q21.31) (figure 1). This is a microdeletion syndrome which is reminiscent of Angelman Syndrome.
What is array CGH?
For many years, chromosome imbalance has been tested by karyotyping. Karyotyping is only able to detect relatively large abnormalities, …
Contributors The article was written by ST and RS with input and figures from DM.
Further reading Unique, at http://www.rarechromo.org is a support group for families affected with chromosomal disorders. It has lots of useful information for patients and professionals, including printable leaflets.
Competing interests None.
Provenance and peer review Commissioned; internally peer reviewed.