Current topic: Behavioural phenotypes: what do they teach us?
Open Access
- 1 March 2000
- journal article
- review article
- Published by BMJ in Archives of Disease in Childhood
- Vol. 82 (3) , 222-225
- https://doi.org/10.1136/adc.82.3.222
Abstract
There is no consensus. Flint2 suggested that it is: “a behaviour, including cognitive processes and social interaction style, that is consistently associated with, and specific to, a syndrome which has a chromosomal or a genetic aetiology”. He added “where there is little doubt that the phenotype is a consequence of the underlying anomaly”, but others feel that definition is too restrictive.5 6 In practice, most behavioural phenotypes are associated with chromosomal aneuploides and microdeletions rather than point mutations in a single gene.Keywords
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