[Uniparental disomy of chromosome 11 in a patient with Beckwith-Wiedemann syndrome. First reported case in Iceland].

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

Back to search

Article

[Uniparental disomy of chromosome 11 in a patient with Beckwith-Wiedemann syndrome. First reported case in Iceland].

Laeknabladid - 1 Nov 2005

Pálsson Gestur I, Finnsdóttir Valdís, Jóhannsson Jóhann Heioar, Ingvarsson Sigurour

Abstract excerpt

Beckwith-Wiedemann syndrome (BWS) is a generalized overgrowth condition as well as regional and organ overgrowth in newborn children. It includes an increased risk of certain embryonal tumours. The aetiology of BWS is complex as different genetic and epigenetic alterations at chromosome region 11p15.5 may occur. We report the first case of paternal uniparental disomy in Beckwith-Wiedemann syndrome in Iceland. The...

Topics

Beckwith-Wiedemann Syndrome
Chromosomes, Human, Pair 11
Genotype
Humans
Iceland
Infant
Male
Uniparental Disomy

Source

Open in PubMed

Identifiers

PMID: 16264244

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics