An Adolescent with a Rare De Novo Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination

We report on a 12-year-old female with both a partial duplication and deletion involving chromosome 6. The duplication involves 6p25.3p24.3 (7.585 Mb) while the deletion includes 6q27q27 (6.244 Mb). This chromosomal abnormality is also described as distal trisomy 6p and distal monosomy 6q. The patie...

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Detalles Bibliográficos
Autores principales: Peterman, Leia A., Vance, Gail H., Conboy, Erin E., Anderson, Katelynn, Weaver, David D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7479479/
https://www.ncbi.nlm.nih.gov/pubmed/32934853
http://dx.doi.org/10.1155/2020/8857628

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7479479/
https://www.ncbi.nlm.nih.gov/pubmed/32934853
http://dx.doi.org/10.1155/2020/8857628

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