Potocki-Lupski syndrome
Log in to starLast updated 19d ago
Log in to add personal notes on this page.
A child presents with hypotonia, failure to thrive, and developmental delay. CMA reveals a 3.7 Mb duplication at 17p11.2, the reciprocal of the Smith-Magenis deletion region.
AD (de novo); 17p11.2 duplication involving RAI1 (reciprocal of Smith-Magenis syndrome deletion). Most duplications are in tandem.
- Infantile hypotonia and failure to thrive
- Developmental delay and intellectual disability (mild to moderate)
- Autism spectrum features (common)
- Cardiovascular anomalies (structural heart defects in ~40%)
- Sleep-disordered breathing / obstructive sleep apnea
- Generally milder phenotype than Smith-Magenis
- Chromosomal microarray (CMA): detects 17p11.2 duplication
- Not detected by standard karyotype (submicroscopic)
- Early intervention and therapies (speech, OT, PT)
- Echocardiogram
- Sleep study for sleep-disordered breathing
- Growth monitoring
PLUS vs MINUS, the reciprocal pair at 17p11.2:
- Potocki-Lupski = PLUS = duplication, three copies of the region
- Smith-Magenis, said "sMIth-mageNUS" = MINUS = deletion, one copy
Same locus, opposite dose: the duplication and the deletion are reciprocal products of the same misalignment.