Potocki-Lupski syndrome
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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 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
"P Dup-Ski": P arm Duplication of chromosome Seventeen (17p11.2). Think of ski poles, which look like the number "11" and (somewhat) like "17." Many magazines stuffed in a pocket ("Potocket") signifies duplication (extra material).
Ski Poles vs Ski Mask: Ski Poles = Potocki-Lupski (dup 17p11.2): the ski poles and arms form the number 17, while the skis form 11. Ski Mask = Smith-Magenis (del 17p11.2): 1 ski mask, so only 1 copy of the region (deletion).
