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Low-Level Trisomy 14 Mosaicism: A Carrier of an Isochromosome 14 and a Supernumerary Marker Chromosome 14.

Cytogenetic and genome research - 1 Jan 2020

Velissariou Voula, Sachinidi Francis, Christopoulou Stavroula, Florentin Lina, Liehr Thomas, Efthymiadou Alexandra, Angelopoulou Eleni, Chrysis Dionisios, Stefanou Eunice G

Abstract excerpt

Trisomy 14 (T14) mosaicism is a rare chromosomal condition characterised by various clinical features, including developmental delay, growth impairment, and dysmorphism. Here, we report on a 12-year-old female referred for cytogenetic analysis due to short stature. Standard GTG-banding analysis on the patient's peripheral blood revealed mosaic Τ14 in the form of an i(14)(q10) in 3% of cells. Furthermore, a small...

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PMID: 33202412
DOI: 10.1159/000511549

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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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