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An Interstitial 4q Deletion with a Mosaic Complementary Ring Chromosome in a Child with Dysmorphism, Linear Skin Pigmentation, and Hepatomegaly

Interstitial deletions of 4q are rarely reported, vary in size, and have limited genotype-phenotype correlations. Here, genome-wide array CGH analysis identified a 21.6 Mb region of copy number loss at 4q12-q21.1 in a patient diagnosed with dysmorphism, linear skin pigmentation, and hepatomegaly. An...

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Detalles Bibliográficos
Autores principales:	Carter, J., Brittain, H., Morrogh, D., Lench, N., Waters, J. J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2017
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5551472/ https://www.ncbi.nlm.nih.gov/pubmed/28819573 http://dx.doi.org/10.1155/2017/4894515

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