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Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.

Courtney P VerscajFrances Velez-BartolomeiEthan BodleKatie ChanMichael J LyonsWilla ThorsonWen-Hann TanNancy RodigJohn M GrahamAngela PeronFabiola Quintero-RiveraElaine H ZackaiMary Ann ThomasCathy A StevensMargaret P AdamLynne M BirdMarilyn C JonesDena R Matalon
Published in: Prenatal diagnosis (2023)
Our findings demonstrate that copy number variant analysis to assess for 17q12 microdeletion should be considered for a variety of prenatally detected renal anomalies. It is important to distinguish 17q12 microdeletion from other etiologies of CAKUT as the prognosis for renal function and presence of associated findings are distinct and may influence pregnancy and postnatal management.
Keyphrases
  • copy number
  • mitochondrial dna
  • genome wide
  • pregnant women
  • preterm infants
  • dna methylation
  • pregnancy outcomes