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Unusual de novo Partial Trisomy 17p12p11.2 due to Unbalanced Insertion into 5p13.1 in a Severely Affected Boy

Gain of copy numbers can be due to different chromosomal rearrangements such as direct or indirect duplications, translocations, small supernumerary marker chromosomes, or insertions. In a 3-year-old boy with dysmorphic features and developmental delay, chromosome analyses revealed a derivative chro...

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Bibliografiske detaljer
Udgivet i:J Pediatr Genet
Main Authors: Mendez-Rosado, Luis Alberto, Lantigua, Araceli, Galarza, Juan, Hamid Al-Rikabi, Ahmed B., Ziegler, Monika, Liehr, Thomas
Format: Artigo
Sprog:Inglês
Udgivet: Georg Thieme Verlag KG 2017
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5548530/
https://ncbi.nlm.nih.gov/pubmed/28794908
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0037-1599195
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