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Article

A Normal Phenotype Case of a Small Supernumerary Marker Chromosome Chimeric Carrier with 12p11.21p11.21 Duplication.

Clinical laboratory - 1 Sept 2026

Chen Weiping, Zhang Tao

Abstract excerpt

BACKGROUND: sSMC refers to an additional chromosome added to the karyotype of normal human chromosomes, which can be identified by cytogenetic techniques, but its source and structure cannot be determined, and its size is generally ≤ chromosome 20 during metaphase. The clinical phenotype of patients with sSMC can be normal, or they can show severe clinical manifestations such as growth retardation, intellectual...

Read the complete abstract on PubMed

Topics

Female
Humans
Chromosome Banding
Chromosome Duplication
Chromosomes, Human, Pair 12
DNA Copy Number Variations
Genetic Markers

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Heterozygote

Karyotyping

Phenotype

Adult

Source

Identifiers

PMID: 42734006
DOI: 10.7754/Clin.Lab.2025.250956

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 21 Oct 2026.

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