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Article

A new case with 10q23 interstitial deletion encompassing both PTEN and BMPR1A narrows the genetic region deleted in juvenile polyposis syndrome.

Journal of applied genetics - 1 Feb 2013

Hiljadnikova Bajro Marija, Sukarova-Angelovska Elena, Adélaïde Jose, Chaffanet Max, Dimovski Aleksandar J

Abstract excerpt

We report on a patient with a contiguous interstitial germline deletion of chromosome 10q23, encompassing BMPR1A and PTEN, with clinical manifestations of juvenile polyposis and minor symptoms of Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRRS). The patient presented dysmorphic features as well as developmental delay at the age of 5 months. Multiple polyps along all parts of the colon were...

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Share to Bone Morphogenetic Protein Receptors, Type I
Share to Chromosomes, Human, Pair 10

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

Share to Developmental Disabilities

Share to Hamartoma Syndrome, Multiple

Share to Intestinal Polyposis

Share to Neoplastic Syndromes, Hereditary

Share to PTEN Phosphohydrolase

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Source

Identifiers

PMID: 22993021
DOI: 10.1007/s13353-012-0115-z

Genes

PTEN

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→

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A new case with 10q23 interstitial deletion encompassing both PTEN and BMPR1A narrows the genetic region deleted in juvenile polyposis syndrome.PMID 22993021Read ↗

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Overlap of Juvenile polyposis syndrome and Cowden syndrome due to de novo chromosome 10 deletion involving BMPR1A and PTEN: implications for treatment and surveillance.Semantic proximity Read ↗

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