Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report

BACKGROUND: Uniparental disomy (UPD) is a rare condition in which a child inherits both copies of a chromosome or chromosome segment from one parent. Medical consequences of UPD may include abnormal imprinting, unmasking of genetic disease, and somatic mosaicism; alternatively, the condition may be...

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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Mol Cytogenet
Asıl Yazarlar: Kerr, Elizabeth R., Stuhlmiller, Gary M., Maha, George C., Ladd, Mark A., Mikhail, Fady M., Koester, Ruth P., Hurst, Anna C. E.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2018
Konular:
Case Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6302445/
https://ncbi.nlm.nih.gov/pubmed/30598700
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-018-0411-3
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