Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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 performed. RESULTS: The karyotype of the patient disclosed a de novo translocation t(X;11)(p22.32;p12). Fluorescent in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to Chromosome Aberrations

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

Share to Chromosome Disorders

Share to In Situ Hybridization, Fluorescence

Share to Infant

Share to Karyotyping

Share to Phenotype

Share to Syndrome

Source

Identifiers

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

Genes

PAX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Gillespie syndrome phenotype with a t(X;11)(p22.32;p12) de novo translocation.PMID 9512164Read ↗

Phenotypic characterization of derivative 22 syndrome: case series and review.Semantic proximity Read ↗

Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies.Semantic proximity Read ↗

Prenatal diagnosis and prenatal imaging of a <i>de novo</i> 46,X,der(Y)t(X;Y)(p22.13;q11.23) leading to functional disomy for the distal end of the X chromosome short arm from Xp22.13 in a phenotypically male fetus with posterior fossa abnormalitiesSemantic proximity Read ↗

Phenotype of a patient with pure partial trisomy 2p(p23-->pter).Semantic proximity Read ↗

Partial trisomy 9p12p21.3 with a normal phenotype.Semantic proximity Read ↗

De novo duplication 11p13 involving the PAX6 gene in a patient with neonatal seizures, hypotonia, microcephaly, developmental disability and minor ocular manifestations.Semantic proximity Read ↗

Melkersson‐Rosenthal syndrome and de novo autosomal t(9;21)(p11;p11) translocationSemantic proximity Read ↗

X-linked deafness-2 (DFNX2) phenotype associated with a paracentric inversion upstream of POU3F4.Semantic proximity Read ↗

SOX11-related syndrome: report on a new case and review.Semantic proximity Read ↗

Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome.Semantic proximity Read ↗

Clinical, cytogenetic, and molecular characterization of a patient with a de novo interstitial 22q12 duplication.Semantic proximity Read ↗

Characterization of a Rare Mosaic Unbalanced Translocation of t(3;12) in a Patient With Neurodevelopmental DisordersSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.