Partial 1q Duplications and Associated Phenotype

Duplications of the long arm of chromosome 1 are rare. Distal duplications are the most common and have been reported as either pure trisomy or unbalanced translocations. The paucity of cases with pure distal 1q duplications has made it difficult to delineate a partial distal trisomy 1q syndrome. He...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Mol Syndromol
Egile Nagusiak: Morris, Marcos L.M., Baroneza, José E., Teixeira, Patricia, Medina, Cristina T.N., Cordoba, Mara S., Versiani, Beatriz R., Roese, Liege L., Freitas, Erika L., Fonseca, Ana C.S., dos Santos, Maria C.G., Pic-Taylor, Aline, Rosenberg, Carla, Oliveira, Silviene F., Ferrari, Iris, Mazzeu, Juliana F.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: S. Karger AG 2016
Gaiak:
Novel Insights from Clinical Practice
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4803000/
https://ncbi.nlm.nih.gov/pubmed/27022331
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000443599
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