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Article

Genotype-Phenotype Analysis of 8q24.3 Duplication and 21q22.3 Deletion in a Chinese Patient and Literature Review.

Public health genomics - 1 Jan 2021

Sun Huihui, Wan Naijun

Abstract excerpt

INTRODUCTION: Copy number variants (CNVs) are responsible for many patients with short stature of unknown etiology. This study aims to analyze clinical phenotypes and identify pathogenic CNVs in a patient with short stature, intellectual disability, craniofacial deformities, and anal imperforation. METHODS: G-banded karyotyping and chromosomal microarray analysis (CMA) was used on the patient to identify...

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PMID: 34265769
DOI: 10.1159/000515547

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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