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Article

Genotype/phenotype correlations in two patients with 12q subtelomere deletions.

American journal of medical genetics. Part A - 15 Nov 2007

Niyazov Dmitriy M, Nawaz Zafar, Justice April N, Toriello Helga V, Martin Christa Lese, Adam Margaret P

Abstract excerpt

Subtelomeric imbalances have been implicated in developmental delay and mental retardation (MR) and described for most chromosomes. This study reports the first detailed description of two individuals with de novo 12q subtelomere deletions and high-resolution mapping of their deletion size with oligonucleotide array CGH for genotype/phenotype comparisons. Patient 1 is an 8-year-old male with borderline mild MR,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17937441
DOI: 10.1002/ajmg.a.32005

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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