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ǂA ǂcoalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5
Danijela Krgović, Ana Blatnik, Ante Burmas, Andreja Zagorac, Nadja Kokalj-Vokač
Izvirni znanstveni članek
Oznake: deletion with inverted duplication of 5p;trisomy 5;Cri-du-chat syndrome;cat-like cry;ear agenesis;
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 ...
Leto: 2014 Vir: Univerza v Mariboru (UM)
Št. zadetkov: 1
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