Login / Signup

Role of comprehensive cytogenomic investigation in successful reproductive outcome of parental small neocentromeric supernumerary ring chromosome: A case report.

Yiming WangJoanna LazierDiane Myles-ReidAbdul NoorDavid ChitayatElena Greenfeld
Published in: Clinical case reports (2023)
Small supernumerary marker chromosomes (sSMC) can form small supernumerary ring chromosomes (sSRC). Loss of parentally inherited sSRC containing vital gene content may cause an "unbalanced" karyotype and fetal microdeletion syndromes. Rarely, sSRC with neocentromere can be inherited, leading to a "balanced" karyotype, which can be diagnosed with preimplantation genetic testing.
Keyphrases
  • copy number
  • gene expression
  • transcription factor
  • genome wide