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Article

17p13.1 microdeletion involving the TP53 gene in a boy presenting with mental retardation but no tumor.

American journal of medical genetics. Part A - 1 May 2010

Schluth-Bolard Caroline, Sanlaville Damien, Labalme Audrey, Till Marianne, Morin Isabelle, Touraine Renaud, Edery Patrick

Abstract excerpt

We report on the diagnosis of a 17p13.1 deletion in a 10-year-old boy. The patient presented with mild developmental delay, facial dysmorphism, joint hyperlaxity, pes planus, hypermetropia, hearing loss, and achromic patches following the Blaschko's lines on the right part of the thorax. Chromosome R-banding was normal. Array CGH using a 244 K oligonucleotide array showed a homogeneous de novo 17p13.1...

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Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 17

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytogenetic Analysis

Share to Infant, Newborn

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Share to Tumor Suppressor Protein p53

Source

Identifiers

PMID: 20425836
DOI: 10.1002/ajmg.a.33316

Genes

EFNB3
FXR2

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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