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

Large Duplications Can Be Benign Copy Number Variants: A Case of a 3.6-Mb Xq21.33 Duplication.

Cytogenetic and genome research - 1 Jan 2017

Maurin Marie-Laure, Arfeuille Chloé, Sonigo Pascale, Rondeau Sophie, Vekemans Michel, Turleau Catherine, Ville Yves, Malan Valérie

Abstract excerpt

Segmental aneusomies are usually associated with clinical consequences, but an increasing number of nonpathogenic cytogenetically visible as well as large cryptic chromosomal imbalances have been reported. Here, we report a 3.6-Mb Xq21.33 microduplication detected prenatally on a female fetus which was inherited from a phenotypically normal mother and grandfather. It is assumed that male patients harboring Xq or...

Read the complete abstract on PubMed

Topics

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

Share to Carrier Proteins
Share to Chromosome Duplication

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Chromosomes, Human, X

Share to DNA Copy Number Variations

Share to Formins

Share to Infant, Newborn

Share to Ribosomal Proteins

Share to X Chromosome Inactivation

Source

Identifiers

PMID: 28273668
DOI: 10.1159/000460278

Genes

DIAPH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Large Duplications Can Be Benign Copy Number Variants: A Case of a 3.6-Mb Xq21.33 Duplication.PMID 28273668Read ↗

Unusual X-chromosome inactivation pattern in patients with Xp11.23-p11.22 duplication: Report and review.Semantic proximity Read ↗

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

2q13 Distal Microdeletion: Considering Evidence for an Emerging Syndrome Versus Susceptibility Locus: Twenty-Five New Cases and Review of the Literature.Semantic proximity Read ↗

Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization.Semantic proximity Read ↗

Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22.Semantic proximity Read ↗

Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.Semantic proximity Read ↗

De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay.Semantic proximity Read ↗

Clinical and molecular characterization of overlapping interstitial Xp21-p22 duplications in two unrelated individuals.Semantic proximity Read ↗

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

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

An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities.Semantic proximity Read ↗

Interstitial duplication of chromosome region 1q25.1q25.3: report of a patient with mild cognitive deficits, tall stature and facial dysmorphisms.Semantic proximity Read ↗

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