MeSH Browser

MeSH Supplementary: Potocki-Lupski syndrome
Unique ID: C538355
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C538355
Entry Term(s): Chromosome 17, trisomy 17p11 2; Chromosome 17p11.2 Duplication Syndrome; Duplication 17p11 2; Duplication 17p11.2 syndrome; Potocki-Lupski syndrome (dup(17)(p11.2p11.2)); Trisomy 17p11 2
Registry Numbers: 0
Heading Mapped to: *Abnormalities, Multiple; *Chromosome Disorders; *Chromosome Duplication
Frequency: 45
Note: A developmental disorder characterized by HYPOTONIA; FAILURE TO THRIVE; INTELLECTUAL DISABILITY, pervasive developmental disorders, and congenital anomalies. All reported cases have occurred sporadically without bias in the parental origin of rearrangements. Most duplications are 3.7 Mb in size and only identifiable by array COMPARATIVE GENOMIC HYBRIDIZATION (CGH) analysis. Approximately 60% of PTLS patients harbor a microduplication of chromosome 17p11.2 reciprocal to the common recurrent 3.7-Mb microdeletion SMITH-MAGENIS SYNDROME. OMIM: 610883
Date of Entry: 2010/08/25
Revision Date: 2017/10/19

Potocki-Lupski syndrome MeSH Supplementary Concept Data 2025