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Article

Parallel deletion and duplication at 7q11.23 in a silent carrier for two reciprocal syndromic disorders.

American journal of medical genetics. Part A - 1 Jul 2023

Lühmann Jonathan Lukas, Schmidt Gunnar, Auber Bernd, Bergmann Anke Katharina, Brandau Oliver, Louis Anja, Hentze Sabine, Eisfeld Katrin, Schlegelberger Brigitte, Klaes Ruediger, Steinemann Doris

Abstract excerpt

Partial deletions at chromosome 7q11.23 are causative for the autosomal-dominant Williams-Beuren syndrome (WBS), whereas the partial duplication of this region leads to the 7q11.23 duplication syndrome. Both syndromes are highly penetrant and occur with a frequency of 1:7500-10,000 (WBS) and 1:13,000-20,000 (7q11.23 duplication syndrome). They are associated with multiple organ defects, intellectual disability,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37081310
DOI: 10.1002/ajmg.a.63215

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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