Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome.

American journal of medical genetics. Part A - 1 Feb 2014

Magoulas Pilar L, Liu Pengfei, Gelowani Violet, Soler-Alfonso Claudia, Kivuva Emma C, Lupski James R, Potocki Lorraine

Abstract excerpt

Potocki-Lupski syndrome (PTLS, OMIM: 610883) is a microduplication syndrome characterized by infantile hypotonia, failure to thrive, cardiovascular malformations, developmental delay, intellectual disability, and behavior abnormalities, the latter of which can include autism spectrum disorder. The majority of individuals with PTLS harbor a de novo microduplication of chromosome 17p11.2 reciprocal to the common...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to Chromosome Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Duplication

Share to Chromosomes, Human, Pair 17

Share to Comparative Genomic Hybridization

Share to Facies

Share to Infant

Share to Smith-Magenis Syndrome

Source

Identifiers

PMID: 24311450
DOI: 10.1002/ajmg.a.36287

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome.PMID 24311450Read ↗

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

Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome.Semantic proximity Read ↗

Duplication 17p11.2 (Potocki-Lupski Syndrome) in a child with developmental delay.Semantic proximity Read ↗

A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia.Semantic proximity Read ↗

Clinical and cytogenetic features of a Potocki-Lupski syndrome with the shortest 0.25Mb microduplication in 17p11.2 including RAI1.Semantic proximity Read ↗

Copy number variations of chromosome 17p11.2 region in children with development delay and in fetuses with abnormal imaging findingsSemantic proximity Read ↗

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

Copy number variations of chromosome 17p11.2 region in children with development delay and in fetuses with abnormal imaging findings.Semantic proximity Read ↗

Searching for Potocki-Lupski syndrome phenotype: a patient with language impairment and no autism.Semantic proximity Read ↗

Maternal UPD(20) Leading to Mulchandani-Bhoj-Conlin Syndrome: A Rare Neonatal Case With Additional TRPS1 Deletion.Semantic proximity Read ↗

Heterozygous Deletion of 10q24.31-q24.33: A New Syndrome Associated with Multiple Congenital AnomaliesSemantic proximity Read ↗

Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2).Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.