Clinical Features of de novo Pure 16q21q24.1 Chromosome Duplication-Reference-Cited by-同舟云学术

Clinical Features of de novo Pure 16q21q24.1 Chromosome Duplication

Published:2021 Issue:3-4 Volume:161 Page:160-166
ISSN:1424-8581
Container-title:Cytogenetic and Genome Research
language:en
Short-container-title:Cytogenet Genome Res

Author:

Carvalho Daniel R.,Moretto Ana Luisa L.,Schneider Marcia,Formigli Lia M.

Abstract

Pure partial duplications of the long arm of chromosome 16 are rare and few cases are described with delineation by chromosomal microarray. Data about clinical abnormalities of pure partial 16q duplications are incomplete because many individuals die during the perinatal period. We describe the clinical features of a 47-month-old Brazilian girl with 16q21q24.1 duplication. To the best of our knowledge, she is the first person with this specific chromosome segment duplication, and we compare her phenotype with the only reported individual alive with intermediate–distal pure 16q duplication.

Publisher

S. Karger AG

Subject

Genetics(clinical),Genetics,Molecular Biology

Reference15 articles.

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