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 mild phenotype associated with a de novo microdeletion 10q23.1-q23.2: a new patient with a novel feature.

BMJ case reports - 18 Apr 2016

Pavone Piero, Praticò Andrea D, Campisi Corrado, Falsaperla Raffaele

Abstract excerpt

Chromosome 10q23 contains several genes, includingPTENandBMPR1A, the mutations or microdeletion of which are associated with aggressive polyposis and malignancies in children. Deletions in this chromosomal region have also been associated with heart anomalies, developmental delay and macrocephaly. Most of the cases reported involve thePTENandBMPR1Agenes, usually associated with complex and severe anomalies. We...

Read the complete abstract on PubMed

Topics

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

Share to Adenomatous Polyps
Share to Child
Share to Chromosome Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 10

Share to Cognitive Dysfunction

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 27090543
DOI: 10.1136/bcr-2016-214388
PMCID: PMC4840634

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A mild phenotype associated with a de novo microdeletion 10q23.1-q23.2: a new patient with a novel feature.PMID 27090543Read ↗

A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features.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 ↗

Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion.Semantic proximity Read ↗

Mild phenotype in a patient with a de-novo 2.9-Mb interstitial deletion at 13q12.11.Semantic proximity Read ↗

Expanding the phenotype associated with interstitial 6p25.1p24.3 microdeletion: a new case and review of the literature.Semantic proximity Read ↗

De Novo 1.77-Mb Microdeletion of 10q22.2q22.3 in a Girl With Developmental Delay, Speech Delay, Congenital Cleft Palate, and Bilateral Hearing Impairment.Semantic proximity Read ↗

A De Novo 8q22.2q22.3 Interstitial Microdeletion in a Girl with Developmental Delay and Congenital Defects.Semantic proximity Read ↗

7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature.Semantic proximity Read ↗

Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2-24.1.Semantic proximity Read ↗

A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders.Semantic proximity Read ↗

8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature.Semantic proximity Read ↗

Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.Semantic proximity Read ↗

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