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Potocki-Lupski syndrome MeSH Supplementary Concept Data 2025


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 Preferred
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