De Novo Mosaic 6p23-p25.3 Tetrasomy Caused by a Small Supernumerary Marker Chromosome Presenting Trisomy Distal 6p Phenotype: A Case Report and Literature Review

De Novo Mosaic 6p23-p25.3 Tetrasomy Caused by a Small Supernumerary Marker Chromosome Presenting Trisomy Distal 6p Phenotype: A Case Report and Literature Review

Small supernumerary marker chromosomes (sSMCs) derived from the chromosome 6 short arm are rare and their clinical significance remains unknown. No case with sSMC(6) without centromeric DNA has been reported. Partial trisomy and tetrasomy of distal 6p is a rare but clinically distinct syndrome. We r...

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Bibliographic Details
Main Authors: Yu-Min Syu, Juine-Yih Ma, Tzu-Hsuen Ou, Chung-Lin Lee, Hsiang-Yu Lin, Shuan-Pei Lin, Chia-Jung Lee, Chih-Ping Chen
Format: Article
Language:English
Published: MDPI AG 2022-09-01
Series:Diagnostics
Subjects:
small supernumerary marker chromosomes
mosaic partial tetrasomy 6p
trisomy 6p
copy number variation sequencing
triplosensitivity
Online Access:https://www.mdpi.com/2075-4418/12/10/2306

Internet

https://www.mdpi.com/2075-4418/12/10/2306

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