Taxon:

Human

Gene:

"BP1-BP2 microdeletion (Burnside-Butler) syndrome (chromosome 15q11.2 deletion syndrome)"

Chromosome:

15

Location:

15q11.2

Description:

BP1-BP2 microdeletion (Burnside-Butler) syndrome (chromosome 15q11.2 deletion syndrome) presents with a wide range of findings including cognitive deficits, language and/or motor delays, autism spectrum disorder, behavioural disturbances, poor coordination, ataxia, attention disorders, seizures, and dysmorphic or congenital anomalies. In an analysis of 15 clinical features, the parent-of-origin of the deletion was different in three: paternally inherited deletions were associated with congenital heart disease (22% vs. 0%, p = 0.004); maternally inherited deletions were associated with macrocephaly (15% vs. 0%, p = 0.016) and autism spetrum disorder (29% vs. 8%, p = 0.02) (Davis KW et al, 2019).

Category:

Parental effect

Record:

1504

Last Modified 7/22/2019

Links:

OMIM  


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