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Article

Phenotype-genotype correlation in two patients with 12q proximal deletion.

Journal of human genetics - 1 Jan 2004

Miyake Noriko, Tonoki Hidefumi, Gallego Marta, Harada Naoki, Shimokawa Osamu, Yoshiura Koh-ichiro, Ohta Tohru, Kishino Tatsuya, Niikawa Norio, Matsumoto Naomichi

Abstract excerpt

Proximal 12q deletion is a very rare chromosomal abnormality. Only five cases have been reported. Among the five, an Argentinian patient (Case 1) with del(12)(q11q13) and a Japanese patient (Case 2) with del(12)(q12q13.12) were analyzed because they shared several clinical features: growth and psychomotor developmental delay; strabismus; broad and short nose with anteverted nostrils; high, arched palate; large,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15362574
DOI: 10.1007/s10038-004-0144-5

Genes

AMIGO2
YAF2

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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