Confined placental mosaicism involving multiple de novo copy number variants associated with fetal growth restriction: A case report.
Am J Med Genet A
; 185(6): 1908-1912, 2021 06.
Article
em En
| MEDLINE
| ID: mdl-33750025
ABSTRACT
The presence of multiple large (>1 Mb) copy number variants (CNVs) in non-malignant tissue is rare in human genetics. We present a liveborn male with a birth weight below the first percentile associated with placental mosaicism involving eight 2.4-3.9 Mb de novo duplications. We found that the duplications likely co-localized to the same cells, were mosaic in the placenta, and impacted maternal and paternal chromosomes. In addition, 27.4 Mb and 240 genes were duplicated in affected cells, including candidate placental genes KISS1 and REN. We ruled out involvement of homologous recombination-based mechanisms or an altered epigenome in generating the CNVs. This case highlights the diversity of genetic abnormalities in the human placenta and the gaps in our knowledge of how such errors arise.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Renina
/
Retardo do Crescimento Fetal
/
Kisspeptinas
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Mosaicismo
Tipo de estudo:
Risk_factors_studies
Limite:
Female
/
Humans
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Male
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Newborn
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Pregnancy
Idioma:
En
Revista:
Am J Med Genet A
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Canadá