Clinical and genetic aspects of the 15q11.2 BP1-BP2 microdeletion disorder.
M G Butler
PMID 28387067WHAT IT FOUND
This microdeletion disorder is associated with speech, motor, learning and behaviour problems, but many carriers are unaffected.
Diagnosis requires genetic testing, usually microarray. Therapy should target each person's specific delays, not assume the deletion alone explains all difficulties.
Key findings
01Intellectual disability and language delay are reported in more than two-thirds of individuals with the 15q11.2 BP1-BP2 microdeletion.
02Not all carriers are clinically affected; literature data from 66,462 individuals estimate penetrance at 10.4%.
03Care is symptom based: speech, behavioural and educational assessment are indicated, and physical or occupational therapy may be needed when motor delay, postural disturbance or seizures are present.
STILL TO COME
How it was doneWhat they foundWhat it means for PTsWhat it means for OTsWhat it means for SLPs
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What it does not show
This is a narrative review, not a controlled trial, so it does not show that therapy changes outcomes. The deletion has incomplete penetrance and variable expression, so not every carrier has symptoms. Clinical descriptions come from patients referred for genetic services, which may overstate problems compared with the general population. No formal diagnostic criteria are established for this disorder. The paper does not show whether the deletion causes more problems when inherited from the mother or father. Family and parental phenotyping is incomplete, so inheritance and recurrence risk interpretation remains uncertain.
The easy way to misread this
Do not assume the deletion alone explains a patient's difficulties. Many carriers are unaffected, and the paper reports incomplete penetrance and variable expression, so other causes and family history still need assessment.