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

A rare case of aniridia and balanced translocation (5;11) (p15.3;q22) arising in the same subject: a challenge for genetic counseling.

Genetic counseling (Geneva, Switzerland) - 1 Jan 2006

Vulcani-Freitas T M, Maciel-Guerra A T

Abstract excerpt

The authors report on a case of isolated aniridia caused by haploinsufficiency of the PAX6 gene, which is located on 11p13, and a balanced translocation t(5;l1)(p15.3;q22) inherited respectively from his father and his mother. Due to the coincidence of two abnormalities in the same chromosome, the segregation of the mutant allele leading to aniridia and of the chromosomes involved in the translocation are not...

Read the complete abstract on PubMed

Topics

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

Share to Aniridia
Share to Chromosomes, Human, Pair 11

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

Share to Chromosomes, Human, Pair 5

Share to Crossing Over, Genetic

Share to Meiosis

Share to Paired Box Transcription Factors

Share to PAX6 Transcription Factor

Share to Translocation, Genetic

Source

Identifiers

PMID: 16719277

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

A rare case of aniridia and balanced translocation (5;11) (p15.3;q22) arising in the same subject: a challenge for genetic counseling.PMID 16719277Read ↗

Identification of novel PAX6 mutations in two families with bilateral aniridia. Mutations in brief no. 167. Online.Semantic proximity Read ↗

[Two neonates with congenital aniridia: the necessity of genetic investigation].Semantic proximity Read ↗

Axenfeld-Rieger anomaly, hypertelorism, clinodactyly, and cardiac anomalies in sibs with an unbalanced translocation der(6)t(6;8).Semantic proximity Read ↗

The Analysis of Meiotic Segregation Patterns and Aneuploidy in the Spermatozoa of Father and Son With Translocation t(4;5)(p15.1;p12) and the Prediction of the Individual Probability Rate for Unbalanced Progeny at BirthSemantic proximity Read ↗

Blepharophimosis sequence and <i>de novo</i> balanced autosomal translocation [46, XY,t(3;4)(q23;p15.2)]: Possible assignment of the trait to 3q23Semantic proximity Read ↗

[Familial chromosome translocation (1;5;15) as a cause of partial trisomy 1p].Semantic proximity Read ↗

Unusual segregation of t(11;22) resulting from crossing-over followed by 3:1 disjunction at meiosis I.Semantic proximity Read ↗

Segregation of chromosomes in sperm of a t(X;18)(q11;p11.1) carrier inherited from his mother: Case ReportSemantic proximity Read ↗

Partial trisomy 8q. Two case reports with maternal translocation and inverted insertion: phenotype analyses and reflections on the risk.Semantic proximity Read ↗

A family with Robertsonian translocation: a potential mechanism of speciation in humansSemantic proximity Read ↗

Two Novel Cases of Autosomal Translocations in the Horse: Warmblood Family Segregating t(4;30) and a Cloned Arabian with a de novo t(12;25).Semantic proximity Read ↗

Risk evaluation of carriers with chromosome reciprocal translocation t(7;13)(q34;q13) and concomitant meiotic segregation analyzed by FISH on ejaculated spermatozoaSemantic proximity Read ↗

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