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

A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay

1 Jan 2014

Abstract excerpt

BACKGROUND: We report clinical and molecular cytogenetic characterization of a 2 year-old girl with 19p13.2p13.12 microdeletion and compare her clinical features with those of three other patients reported before. RESULT: Array comparative genomic hybridization (aCGH) revealed in the present patient a de novo microdeletion of 1.45 Mb within 19p13.2p13.12. The deletion includes seven OMIM genes: MAN2B1, RNASEH2A,...

Read the complete abstract on PubMed

Topics

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

Share to Chromatin Remodeling and Cancer
Share to Congenital Ear and Nasal Anomalies
Share to Genomic variations and chromosomal abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 24963350
DOI: 10.1186/1755-8166-7-40

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delayPMID 24963350Read ↗

A novel microdeletion/microduplication syndrome of 19p13.13.Semantic proximity Read ↗

A de novo 2.1-Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic features.Semantic proximity Read ↗

Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case reportSemantic proximity Read ↗

Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions.Semantic proximity Read ↗

Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients.Semantic proximity Read ↗

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children.Semantic proximity Read ↗

Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay.Semantic proximity Read ↗

A de novo microtriplication at 4q21.21-q21.22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speech.Semantic proximity Read ↗

A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features.Semantic proximity Read ↗

Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome.Semantic proximity Read ↗

Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems.Semantic proximity Read ↗

A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphismSemantic proximity Read ↗

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