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A de novo complex chromosomal rearrangement involving chromosomes 2, 8 and 13 in a dysmorphic case with polysyndactyly

We report herein a case with dysmorphic features, polysyndactyly and psychomotor mental retardation, who had an apparently balanced de novo translocation between chromosomes 8 and 13 as well as a de novo insertion within chromosome 2 itself. This case is worth mentioning in the sense that it...

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Hlavní autoři: Birsen Karaman, Rasim Ozgür Rosti, Kader Yilmaz, Havva Oztürk, Hülya Kayserili, Seher Başaran
Médium: Artigo
Jazyk:Inglês
Vydáno: Hacettepe University Institute of Child Health 2009-12-01
Edice:The Turkish Journal of Pediatrics
On-line přístup:https://turkjpediatr.org/article/view/2367
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