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Article

Ring Chromosome 17 Syndrome-A Case Report and Discussion of Diagnostic Methods.

American journal of medical genetics. Part A - 1 Mar 2025

Kim Sun Young, Wohler Elizabeth, Gutierrez Maria Jimena, Sadreameli Christy, Kossoff Eric, Sobreira Nara Lygia

Abstract excerpt

Ring chromosome 17 and 17p13.3 deletion syndrome are phenotypically heterogeneous diseases with similar clinical features. The ring chromosome 17 phenotypic features range from the Miller-Dieker syndrome characterized by deletion of the PAFAH1B1 gene, lissencephaly, hypotonia, dysphagia, café au lait spots, and severe intellectual disability, to a milder phenotype characterized by microcephaly, seizures, delayed...

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

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Identifiers

PMID: 39513527
DOI: 10.1002/ajmg.a.63925
PMCID: PMC12131107

Genes

CRK
YWHAE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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