title: Noonan syndrome: prenatal diagnosis in a woman carrying a PTPN11 gene mutation.
abstract: OBJECTIVE
  To describe the case of a pregnant woman and her fetus with Noonan syndrome (NS) whom were diagnosed through ultrasonography 3D and molecular analysis of the PTPN11 gene.
  
  
  METHODS
  Case report.
  
  
  RESULTS
  We detected in a pregnant woman and her child the G<A transition at position 236 in exon 3 of the PTPN11 gene causative of NS. Antenatal diagnosis was possible through ultrasonography in the 24th week of gestation.
  
  
  CONCLUSIONS
  Ultrasonography 3D is useful in the antenatal diagnosis of major congenital anomalies. Molecular studies should also be included to confirm the specific diagnosis.
authors.affiliation: Servicio de Genética, Instituto Nacional de Rehabilitación, Hospital General de México, Facultadde Medicina, Universidad Nacional Autónoma de México, México DF, México.
authors.forename: Norma Celia
authors.initials: NC
authors.lastname: González-Huerta
authors.forename: Juan Manuel
authors.initials: JM
authors.lastname: Valdés-Miranda
authors.forename: Adrián
authors.initials: A
authors.lastname: Pérez-Cabrera
authors.forename: Guillermo
authors.initials: G
authors.lastname: Pacheco-Cuellar
authors.forename: Luz Maria
authors.initials: LM
authors.lastname: González-Huerta
authors.forename: Sergio Alberto
authors.initials: SA
authors.lastname: Cuevas-Covarrubias
mesh_terms: D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D021621:Imaging, Three-Dimensional; D009154:Mutation / Q000502:physiology; D009634:Noonan Syndrome / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics*; D016216:Ultrasonography, Prenatal / Q000379:methods
chemical_list: C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11