Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.

doi:10.1093/hmg/ddr078

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

Community

Back to search

Article

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.

Human molecular genetics - 15 May 2011

Liu Pengfei, Erez Ayelet, Nagamani Sandesh C Sreenath, Bi Weimin, Carvalho Claudia M B, Simmons Alexandra D, Wiszniewska Joanna, Fang Ping, Eng Patricia A, Cooper M Lance, Sutton V Reid, Roeder Elizabeth R, Bodensteiner John B, Delgado Mauricio R, Prakash Siddharth K, Belmont John W, Stankiewicz Pawel, Berg Jonathan S, Shinawi Marwan, Patel Ankita, Cheung Sau Wai, Lupski James R

Abstract excerpt

Genomic instability is a feature of the human Xp22.31 region wherein deletions are associated with X-linked ichthyosis, mental retardation and attention deficit hyperactivity disorder. A putative homologous recombination hotspot motif is enriched in low copy repeats that mediate recurrent deletion at this locus. To date, few efforts have focused on copy number gain at Xp22.31. However, clinical testing revealed a...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Breakage

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, X

Share to Comparative Genomic Hybridization

Share to DNA Copy Number Variations

Share to Gene Duplication

Share to Gene Order

Share to Gene Rearrangement

Share to Segmental Duplications, Genomic

Source

Open in PubMed Open full text

Identifiers

PMID: 21355048
DOI: 10.1093/hmg/ddr078
PMCID: PMC3080608

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.PMID 21355048Read ↗

Pathological consequences of sequence duplications in the human genome.Semantic proximity Read ↗

Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: An update and literature reviewSemantic proximity Read ↗

The Phenotypic Spectrum of 16p11.2 Recurrent Chromosomal Rearrangements.Semantic proximity Read ↗

Mechanisms for recurrent and complex human genomic rearrangements.Semantic proximity Read ↗

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

Common recurrent microduplication syndromes: Diagnosis and management in clinical practiceSemantic proximity Read ↗

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.Semantic proximity Read ↗

Disorders Associated With Diverse, Recurrent Deletions and Duplications at 1q21.1Semantic proximity Read ↗

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

22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated FeaturesSemantic proximity Read ↗

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.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 ↗

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