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Ventriculomegaly and cerebellar hypoplasia in a neonate with interstitial 11q 24 deletion in Jacobsen syndrome region.

Surasak PuvabanditsinCharlotte Wang ChenMarissa BotwinickKaren HusseinJoseph MariduenaRajeev Mehta
Published in: Clinical case reports (2018)
Jacobsen syndrome (JS) is a rare contiguous gene disorder caused by partial deletion of the distal part of the long arm of chromosome 11 ranging in size from 7 to 20 Mb. We report a term male neonate with an interstitial deletion of about 12.3 megabase (Mb) of chromosome 11q24.1qter. Our case is the first reported newborn patient with 11q24 deletion.
Keyphrases
  • case report
  • copy number
  • preterm infants
  • dna methylation
  • gene expression
  • transcription factor
  • gestational age