A rare unbalanced translocation (trisomy 5q33.3‐qter, monosomy 13q34‐qter) results in growth hormone deficiency and brain anomalies

BACKGROUND: Unbalanced translocations between the q arm of chromosomes 5 and 13 are exceedingly rare and there is only one reported case with distal trisomy 5q/monosomy 13q. In this report, we describe a second patient with a similar rearrangement arising from a paternal balanced translocation. METH...

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Detalles Bibliográficos
Autores principales: Joynt, Alyssa C. M., Deshwar, Ashish R., Zon, Jessica, Dupuis, Lucie, Wherrett, Diane K., Mendoza‐Londono, Roberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8606198/
https://www.ncbi.nlm.nih.gov/pubmed/34623774
http://dx.doi.org/10.1002/mgg3.1821

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8606198/
https://www.ncbi.nlm.nih.gov/pubmed/34623774
http://dx.doi.org/10.1002/mgg3.1821

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