Details

Autor(en) / Beteiligte

• Del Gobbo, Giulia F.
• Yuan, Victor
• Robinson, Wendy P.

Titel

Confined placental mosaicism involving multiple de novo copy number variants associated with fetal growth restriction: A case report

Ist Teil von

• American journal of medical genetics. Part A, 2021-06, Vol.185 (6), p.1908-1912

Ort / Verlag

Hoboken, USA: John Wiley & Sons, Inc

Erscheinungsjahr

2021

Quelle

Wiley Online Library

Beschreibungen/Notizen

• 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.