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Article

Insertional translocation leading to a 4q13 duplication including the EPHA5 gene in two siblings with attention-deficit hyperactivity disorder.

American journal of medical genetics. Part A - 1 Aug 2013

Matoso Eunice, Melo Joana B, Ferreira Susana I, Jardim Ana, Castelo Teresa M, Weise Anja, Carreira Isabel M

Abstract excerpt

An insertional translocation (IT) can result in pure segmental aneusomy for the inserted genomic segment allowing to define a more accurate clinical phenotype. Here, we report on two siblings sharing an unbalanced IT inherited from the mother with a history of learning difficulty. An 8-year-old girl with developmental delay, speech disability, and attention-deficit hyperactivity disorder (ADHD), showed by GTG...

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Topics

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Share to Attention Deficit Disorder with Hyperactivity
Share to Chromosomes, Human, Pair 4

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

Share to Developmental Disabilities

Share to Gene Duplication

Share to Microarray Analysis

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Share to Translocation, Genetic

Source

Identifiers

PMID: 23824631
DOI: 10.1002/ajmg.a.36032

Genes

EPHA5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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