Further Phenotypic Delineation of Partial Trisomy 17q and Partial Monosomy 20q due to Rare t(17;20)

Copy number variations in subtelomeric regions of chromosomes 17 and 20 are associated with intellectual disability and various systemic manifestations. Microarray analysis allows identification of submicroscopic chromosomal abnormalities and is applicable to elucidate the etiology of cognitive impa...

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Vydáno v:Mol Syndromol
Hlavní autoři: Ürel-Demir, Gizem, Akgün-Doğan, Özlem, Oğuz, Sümeyra, Güleray-Lafcı, Naz, Şimşek-Kiper, Pelin Özlem, Eda Utine, Gülen, Alikaşifoğlu, Mehmet, Boduroğlu, Koray
Médium: Artigo
Jazyk:Inglês
Vydáno: S. Karger AG 2020
Témata:
Novel Insights from Clinical Practice
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7109379/
https://ncbi.nlm.nih.gov/pubmed/32256300
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000505141
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