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Intrauterine ultrasound phenotyping, molecular characteristics, and postnatal follow-up of fetuses with the 15q11.2 BP1-BP2 microdeletion syndrome: a single-center, retrospective clinical study.

Meiying CaiAixiang LvWantong ZhaoLiangpu XuNa LinHailong Huang
Published in: BMC pregnancy and childbirth (2024)
Fetuses with the 15q11.2 BP1-BP2 microdeletion showed high proportions of phenotypic abnormalities, but the specificity of penetrance was low. Thus, fetuses with this syndrome are potentially at a higher risk of postnatal growth/behavioral problems and require continuous monitoring of growth and development.
Keyphrases
  • gestational age
  • preterm infants
  • case report
  • magnetic resonance imaging
  • mental health
  • high throughput
  • cross sectional
  • preterm birth
  • structural basis