Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury

Chromosomal structural variation can cause severe neurodevelopmental and neuropsychiatric phenotypes. Here we present a nonverbal female adolescent with severe stereotypic movement disorder with severe problem behavior (e.g., self-injurious behavior, aggression, and disruptive and destructive behavi...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Cold Spring Harb Mol Case Stud
Κύριοι συγγραφείς: Osei-Owusu, Ikeoluwa A., Norris, Alexis L., Joynt, Anya T., Thorpe, Jeremy, Cho, Soonweng, Tierney, Elaine, Schmidt, Jonathan, Hagopian, Louis, Harris, Jacqueline, Pevsner, Jonathan
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Cold Spring Harbor Laboratory Press 2020
Θέματα:
Research Report
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7784495/
https://ncbi.nlm.nih.gov/pubmed/33335013
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a005884
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