Cargando…
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...
Autores principales: | Osei-Owusu, Ikeoluwa A., Norris, Alexis L., Joynt, Anya T., Thorpe, Jeremy, Cho, Soonweng, Tierney, Elaine, Schmidt, Jonathan, Hagopian, Louis, Harris, Jacqueline, Pevsner, Jonathan |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cold Spring Harbor Laboratory Press
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7784495/ https://www.ncbi.nlm.nih.gov/pubmed/33335013 http://dx.doi.org/10.1101/mcs.a005884 |
Ejemplares similares
-
A rare unbalanced translocation (trisomy 5q33.3‐qter, monosomy 13q34‐qter) results in growth hormone deficiency and brain anomalies
por: Joynt, Alyssa C. M., et al.
Publicado: (2021) -
Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter
por: Morokawa, Hirokazu, et al.
Publicado: (2018) -
Partial trisomy 2q(2q37.3-->qter) and monosomy 7q(7q34--->qter) due to paternal reciprocal translocation 2;7: a case report.
por: Ahn, Jun Mo, et al.
Publicado: (2003) -
Duplication of subtelomeric regions in an adult with acute monocytic leukemia with an acquired jumping translocation involving 3q13.31-qter
por: Kjeldsen, Eigil
Publicado: (2017) -
A first case of primary amenorrhea with i(X)(qter---q10::---qter), rob(13;14)(q10;q10), inv(9)(p13q33) karyotype
por: Korgaonkar, Seema, et al.
Publicado: (2011)