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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Mol Syndromol
Hauptverfasser: Ürel-Demir, Gizem, Akgün-Doğan, Özlem, Oğuz, Sümeyra, Güleray-Lafcı, Naz, Şimşek-Kiper, Pelin Özlem, Eda Utine, Gülen, Alikaşifoğlu, Mehmet, Boduroğlu, Koray
Format: Artigo
Sprache:Inglês
Veröffentlicht: S. Karger AG 2020
Schlagworte:
Novel Insights from Clinical Practice
Online Zugang: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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