Gain of Chromosome 4qter and Loss of 5pter: An Unusual Case with Features of Cri du Chat Syndrome

Here, we present a case with an unusual chromosomal rearrangement in a child with a predominant phenotype of high-pitched crying showing deletion encompassing CTNND2 due to an unbalanced translocation of chromosomes 4 and 5. This rearrangement led to a duplication of ~35 Mb in 4qter which replaced 1...

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Detalles Bibliográficos
Autores principales: Sheth, Frenny, Gohel, Naresh, Liehr, Thomas, Akinde, Olakanmi, Desai, Manisha, Adeteye, Olawaleye, Sheth, Jayesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3539376/
https://www.ncbi.nlm.nih.gov/pubmed/23320207
http://dx.doi.org/10.1155/2012/153405

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3539376/
https://www.ncbi.nlm.nih.gov/pubmed/23320207
http://dx.doi.org/10.1155/2012/153405

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