Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features

Distal deletions and duplications of 3p are individually well-characterized chromosome abnormalities. Here, we report an inverted duplication of 3p with an adjacent terminal 3p deletion in a 17-month-old girl who had prenatal intrauterine growth restriction and cardiac defects. Other findings includ...

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Vydáno v:Case Rep Genet
Hlavní autoři: Riley, Jacquelyn D., Stefaniuk, Catherine M., Erenberg, Francine, Erwin, Angelika L., Palange, Lauren, Astbury, Caroline
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi 2019
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6683815/
https://ncbi.nlm.nih.gov/pubmed/31428485
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2019/5384295
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