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Article

A case associated with Walker Warburg syndrome phenotype and homozygous pericentric inversion 9: coincidental finding or aetiological factor?

Acta paediatrica (Oslo, Norway : 1992) - 1 May 1999

Baltaci V, Ors R, Kaya M, Balci S

Abstract excerpt

We describe a rare occurrence of pericentric inversion in homologues of chromosome 9 observed in a 2-mo-old female baby with eye and brain abnormalities. Her clinical and neuroradiological features are similar to the signs of Walker-Warburg syndrome. We found the same inversion in heterozygous condition in all metaphases of both parents, who are related, and in two grandparents and their mother. The cytogenetic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10426185
DOI: 10.1080/08035259950169639

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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