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Article

Potocki-Lupski syndrome: an inherited dup(17)(p11.2p11.2) with hypoplastic left heart.

American journal of medical genetics. Part A - 1 Feb 2011

Yusupov Roman, Roberts Amy E, Lacro Ronald V, Sandstrom Mary, Ligon Azra H

Abstract excerpt

Low copy repeat (LCR) sequences in 17p11.2 predispose this region to genomic deletions and duplications. Duplication of 17p11.2, also known as Potocki-Lupski syndrome (PTLS), is a well-described microduplication syndrome featuring cognitive and language deficits, developmental delay, autistic behavior, structural cardiovascular anomalies, hypotonia, failure to thrive, apnea, and dysmorphism. We present a mother...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21271656
DOI: 10.1002/ajmg.a.33845

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Potocki-Lupski syndrome: an inherited dup(17)(p11.2p11.2) with hypoplastic left heart.PMID 21271656Read ↗

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