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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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Dettagli Bibliografici
Pubblicato in:Case Rep Genet
Autori principali: Peterman, Leia A., Vance, Gail H., Conboy, Erin E., Anderson, Katelynn, Weaver, David D.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Hindawi 2020
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7479479/
https://ncbi.nlm.nih.gov/pubmed/32934853
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2020/8857628
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