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Prenatal diagnosis of a rare de novo 1q22-q25.1 chromosomal deletion syndrome using oligo array CGH.

Gholamreza ShariatiAlihossein SaberiMohammad HamidHamid GalehdariAlireza SedaghatNehzat Abdorasuli
Published in: Clinical case reports (2018)
We present prenatal diagnosis of a case with a rare de novo interstitial deletion of 1q21-q25.1 by oligo array CGH and provide detailed information on unbalanced gene content and the breakpoints. The affected fetus was delivered at 37 weeks' gestation with a unique clinical phenotype.
Keyphrases
  • copy number
  • high throughput
  • high resolution
  • gestational age
  • preterm infants
  • high density
  • genome wide
  • case report
  • gene expression
  • social media
  • transcription factor
  • mass spectrometry