Ventriculomegaly and cerebellar hypoplasia in a neonate with interstitial 11q 24 deletion in Jacobsen syndrome region

Jacobsen syndrome (JS) is a rare contiguous gene disorder caused by partial deletion of the distal part of the long arm of chromosome 11 ranging in size from 7 to 20 Mb. We report a term male neonate with an interstitial deletion of about 12.3 megabase (Mb) of chromosome 11q24.1qter. Our case is the...

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Detalles Bibliográficos
Autores principales: Puvabanditsin, Surasak, Chen, Charlotte Wang, Botwinick, Marissa, Hussein, Karen, Mariduena, Joseph, Mehta, Rajeev
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028426/
https://www.ncbi.nlm.nih.gov/pubmed/29988670
http://dx.doi.org/10.1002/ccr3.1560

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028426/
https://www.ncbi.nlm.nih.gov/pubmed/29988670
http://dx.doi.org/10.1002/ccr3.1560

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