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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Detaylı Bibliyografya
Asıl Yazarlar: Krgovic, Danijela, Blatnik, Ana, Burmas, Ante, Zagorac, Andreja, Kokalj Vokac, Nadja
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2014
Konular:
Case Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3923007/
https://ncbi.nlm.nih.gov/pubmed/24517234
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-15-21
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