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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Detalles Bibliográficos
Autores principales: Syu, Yu-Min, Ma, Juine-Yih, Ou, Tzu-Hsuen, Lee, Chung-Lin, Lin, Hsiang-Yu, Lin, Shuan-Pei, Lee, Chia-Jung, Chen, Chih-Ping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9600663/
https://www.ncbi.nlm.nih.gov/pubmed/36291995
http://dx.doi.org/10.3390/diagnostics12102306

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9600663/
https://www.ncbi.nlm.nih.gov/pubmed/36291995
http://dx.doi.org/10.3390/diagnostics12102306

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