A coalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5

BACKGROUND: Rearrangements involving chromosome 5p often result in two syndromes, Cri-du-chat (CdC) and Trisomy 5p, caused by a deletion and duplication, respectively. The 5p15.2 has been defined as a critical region for CdC syndrome; however, genotype-phenotype studies allowed isolation of particul...

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Detalles Bibliográficos
Autores principales: Krgovic, Danijela, Blatnik, Ana, Burmas, Ante, Zagorac, Andreja, Kokalj Vokac, Nadja
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3923007/
https://www.ncbi.nlm.nih.gov/pubmed/24517234
http://dx.doi.org/10.1186/1471-2350-15-21

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3923007/
https://www.ncbi.nlm.nih.gov/pubmed/24517234
http://dx.doi.org/10.1186/1471-2350-15-21

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