Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.

doi:10.1086/512864

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Article

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.

American journal of human genetics - 1 Apr 2007

Potocki Lorraine, Bi Weimin, Treadwell-Deering Diane, Carvalho Claudia M B, Eifert Anna, Friedman Ellen M, Glaze Daniel, Krull Kevin, Lee Jennifer A, Lewis Richard Alan, Mendoza-Londono Roberto, Robbins-Furman Patricia, Shaw Chad, Shi Xin, Weissenberger George, Withers Marjorie, Yatsenko Svetlana A, Zackai Elaine H, Stankiewicz Pawel, Lupski James R

Abstract excerpt

The duplication 17p11.2 syndrome, associated with dup(17)(p11.2p11.2), is a recently recognized syndrome of multiple congenital anomalies and mental retardation and is the first predicted reciprocal microduplication syndrome described--the homologous recombination reciprocal of the Smith-Magenis syndrome (SMS) microdeletion (del(17)(p11.2p11.2)). We previously described seven subjects with dup(17)(p11.2p11.2) and...

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Identifiers

PMID: 17357070
DOI: 10.1086/512864
PMCID: PMC1852712

Genes

SMS
RAI1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.PMID 17357070Read ↗

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