Interstitial duplication of 8q22.1‐q23.1‐ A case report and review of the literature

This report highlights the clinical features seen in duplication of 8q22.1q23.1 inherited from balanced father. It stresses the importance of obtaining a karyotype to identify the location of a large copy number variant for accurate recurrence risk estimation.

Sparad:
Bibliografiska uppgifter
I publikationen:Clin Case Rep
Huvudupphovsmän: Leary, Steven, Porterfield, Harry S., Kotlarek, Jaclyn R., Darbro, Benjamin W., Sidhu, Alpa
Materialtyp: Artigo
Språk:Inglês
Publicerad: John Wiley and Sons Inc. 2019
Ämnen:
Case Reports
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6935641/
https://ncbi.nlm.nih.gov/pubmed/31893066
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.2507
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