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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

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