Gillespie syndrome phenotype with a t(X;11)(p22.32;p12) de novo translocation.

doi:10.1016/s0002-9394(99)80157-3

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Article

Gillespie syndrome phenotype with a t(X;11)(p22.32;p12) de novo translocation.

American journal of ophthalmology - 1 Mar 1998

Dollfus H, Joanny-Flinois O, Doco-Fenzy M, Veyre L, Joanny-Flinois L, Khoury M, Jonveaux P, Abitbol M, Dufier J L

Abstract excerpt

PURPOSE: To report a patient with a phenotype suggestive of Gillespie syndrome and with a chromosomal abnormality. METHODS: Clinical evaluation showed bilateral superior coloboma, foveal hypoplasia, and inferior cerebellar hypoplasia. Karyotyping as well as investigation of the PAX6 gene were per...

Topics

Abnormalities, Multiple
Cerebellum
Chromosome Aberrations
Chromosome Disorders
Chromosomes, Human, Pair 11
Coloboma
Female
Fovea Centralis
Humans
In Situ Hybridization, Fluorescence
Infant
Intellectual Disability

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Iris

Karyotyping

Magnetic Resonance Imaging

Phenotype

Syndrome

Translocation, Genetic

Source

Open in PubMed

Identifiers

PMID: 9512164
DOI: 10.1016/s0002-9394(99)80157-3

Genes

PAX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9512164-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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