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Article

Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia.

American journal of medical genetics. Part A - 1 Nov 2012

Simioni Milena, Vieira Társis Paiva, Sgardioli Ilária Cristina, Freitas Erika Lopes, Rosenberg Carla, Maurer-Morelli Cláudia Vianna, Lopes-Cendes Iscia, Fett-Conte Agnes Cristina, Gil-da-Silva-Lopes Vera Lúcia

Abstract excerpt

We report on a boy presenting submucous cleft palate, hydronephrosis, ventriculoseptal defect, aniridia, and developmental delay. Additional material on 11p13 was cytogenetically visible and array analyses identified a duplicated segment on 15q25-26 chromosome region; further, array analyses revealed a small deletion (49 kb) at 11p13 region involving the ELP4 gene and a duplication at 8p23.1. Results were...

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Share to Chromosomes, Human, Pair 11

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22991255
DOI: 10.1002/ajmg.a.35603

Genes

ELP4

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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