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A rare case of de novo mosaicism: Deletion 18p and isochromosome 18q syndrome

Monosomy 18p syndrome is a rare chromosomal disorder with varying phenotypic and clinical manifestations. Dysmorphism, growth delay, delayed speech and mental retardation are a few of the commonest features observed. The cytogenetic findings also vary and may comprise a pure deletion of the entire 1...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Pediatr Genet
Prif Awduron: Udayakumar, Achandira M., Al-Kindy, Adila
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Georg Thieme Verlag KG 2013
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5020969/
https://ncbi.nlm.nih.gov/pubmed/27625852
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/PGE-13058
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