Duplication of 1q31.3q41 in two affected siblings due to paternal insertional translocation

We report two sisters with developmental delay and dysmorphic features, as well as a history of seizures. Both sisters have short stature, microcephaly and shared facial dysmorphisms. We detected an 18.1 Mb interstitial gain in 1q31.3q41 and a 140 kb interstitial loss in 7p11.2 in both siblings by u...

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Bibliografske podrobnosti
izdano v:BMJ Case Rep
Main Authors: Sihombing, Nydia Rena Benita, de Leeuw, Nicole, van Bokhoven, Hans, Faradz, Sultana MH
Format: Artigo
Jezik:Inglês
Izdano: BMJ Publishing Group 2019
Teme:
Rare Disease
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6721318/
https://ncbi.nlm.nih.gov/pubmed/31473642
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2019-230941
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