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Title: Phenotype and variations associated with the deletion of the 1q44 cytoband and the pathogenic duplication in the 9q32q34.3 cytobands.
Issue Date: 8-Mar-2020
Citation: BMJ Case Rep.2020;(13)3:
Abstract: ​The advance in the human genetic field has permitted to identify small chromosome alterations and associate them to a specific phenotype. However, there are many mutations that have not yet been described in the literature. We describe the clinical case of a term newborn with appropriate weight to its gestational age, without perinatal background of interest that, at birth, presented: macrocephaly, hypertelorism, low-set ears, prominent forehead, micrognathia, camptodactyly, bilateral cryptorchidism, inspiratory stridor with the cry, multifocal systolic murmur, wide anterior fontanel and hypotonia of mixed characteristics and in whom a deletion of the 1q44 cytoband and a pathogenic duplication in the 9q32q34.3 cytoband were detected. We perform a review of the literature.
PMID: 32152069
Appears in Collections:Hospitales > H. U. de Móstoles > Artículos

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