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Mosaic Tetrasomy of 9p24.3q21.11 postnatally identified in an infant born with multiple congenital malformations: a case report

BACKGROUND: Supernumerary Marker Chromosomes consist in structurally abnormal chromosomes, considered as an extra chromosome in which around 70% occur as a de novo event and about 30% of the cases are mosaic. Tetrasomy 9p is a rare chromosomal abnormality described as the presence of a supernumerary...

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Détails bibliographiques
Publié dans:BMC Pediatr
Auteurs principaux: Pinto, Irene Plaza, Minasi, Lysa Bernardes, Steckelberg, Raphael, da Silva, Claudio Carlos, da Cruz, Aparecido Divino
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2018
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6128999/
https://ncbi.nlm.nih.gov/pubmed/30193577
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-018-1275-8
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