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

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 condi...

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Bibliographic Details
Published in:Acta pædiatrica (Oslo) 1999-05, Vol.88 (5), p.579-583
Main Authors: BALTACI, V, ÖRS, R, KAYA, M, BALCI, S
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Biological and medical sciences
Brain - abnormalities
Chromosome Inversion
Chromosomes, Human, Pair 9 - genetics
Complex syndromes
Eye Abnormalities - diagnosis
Eye Abnormalities - genetics
Female
Homozygote
Humans
Infant
Magnetic Resonance Imaging
Medical genetics
Medical sciences
Metaphase - genetics
Muscular Dystrophies - diagnosis
Muscular Dystrophies - genetics
Pedigree
Phenotype
Syndrome
Tropical medicine
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Summary: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 abnormality alone does not explain the phenotype in this patient, but it warrants further linkage studies with emphasis on the pericentric region of chromosome 9 in patients with Walker-Warburg syndrome phenotype. This family case is unique and raises suspicions about whether the pericentric region of chromosome 9 has any connection with the phenotype of Walker-Warker syndrome.
ISSN:0803-5253
1651-2227
DOI:10.1080/08035259950169639