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

Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies.

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

Esplin Edward D, Li Ben, Slavotinek Anne, Novelli Antonio, Battaglia Agatino, Clark Robin, Curry Cynthia, Hudgins Louanne

Abstract excerpt

Comparative genomic hybridization (CGH) arrays have significantly changed the approach to identifying genetic alterations causing intellectual disability and congenital anomalies. Several studies have described the microduplication of Xp22.31, involving the STS gene. In such reports characteristic features and pathogenicity of Xp22.31 duplications remains a subject of debate. Here we present a series of nine...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Breakpoints
Share to Chromosome Duplication

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, X

Share to Clubfoot

Share to Comparative Genomic Hybridization

Share to Facies

Share to Gene Order

Share to Seizures

Source

Identifiers

PMID: 24800990
DOI: 10.1002/ajmg.a.36598

Genes

STS

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies.PMID 24800990Read ↗

Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?Semantic proximity Read ↗

A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features.Semantic proximity Read ↗

17q21.31 microdeletion syndrome: further expanding the clinical phenotype.Semantic proximity Read ↗

Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.Semantic proximity Read ↗

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.Semantic proximity Read ↗

11p11.12p12 duplication in a family with intellectual disability and craniofacial anomalies.Semantic proximity Read ↗

17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction.Semantic proximity Read ↗

Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases.Semantic proximity Read ↗

Pachygyria, seizures, hypotonia, and growth retardation in a patient with an atypical 1.33Mb inherited microduplication at 22q11.23.Semantic proximity Read ↗

Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature.Semantic proximity Read ↗

Proximal 1q21 duplication: A syndrome or a susceptibility locus?Semantic proximity Read ↗

Clinical and genetic analysis of a phenotypically normal three-generation family carrying 10.884 Mb deletions at 13q21.1q21.32.Semantic proximity Read ↗

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