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

Daniel R Carvalho1, Ana Luisa L Moretto1, Marcia Schneider1

  • 1SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil.

Cytogenetic and Genome Research
|June 9, 2021
PubMed

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.

Keywords:
Chromosomal microarrayDevelopmental delayDysmorphic facial featuresPartial trisomy 16qSegmental 16q duplication

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