Case Report: Prenatal Identification of a De Novo Mosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected Girl

Case Report: Prenatal Identification of a De Novo Mosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected Girl

Partial tetrasomy of distal 13q has a reported association with a variable phenotype including microphthalmia, ear abnormalities, hypotelorism, facial dysmorphisms, urogenital defects, pigmentation and skin defects, and severe learning difficulties. A wide range of mosaicism has been reported, which...

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Bibliographic Details
Main Authors: Avinash V. Dharmadhikari, Elaine M. Pereira, Carli C . Andrews, Michael Macera, Nina Harkavy, Ronald Wapner, Vaidehi Jobanputra, Brynn Levy, Mythily Ganapathi, Jun Liao
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-07-01
Series:Frontiers in Genetics
Subjects:
supernumerary marker chromosome
chromosomal microarray
non-invasive prenatal screening
13q31.1
neocentromere
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.906077/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.906077/full

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