Noonan syndrome: prenatal diagnosis in a woman carrying a PTPN11 gene mutation.
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.
González-Huerta
Norma Celia
NC
Servicio de Genética, Instituto Nacional de Rehabilitación, Hospital General de México, Facultadde Medicina, Universidad Nacional Autónoma de México, México DF, México.
Valdés-Miranda
Juan Manuel
JM
Pérez-Cabrera
Adrián
A
Pacheco-Cuellar
Guillermo
G
González-Huerta
Luz Maria
LM
Cuevas-Covarrubias
Sergio Alberto
SA
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
C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11