Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing.
Noonan syndrome is a genetically heterogeneous condition primarily due to missense mutations in PTPN11. Prenatal diagnosis is typically made in a fetus with increased nuchal translucency and normal karyotype. We demonstrate the ability of whole exome sequencing to make prenatal diagnoses that would not have been made from phenotype alone.
Columbia University Medical Center New York, New York.
Alexandra
A
Coromilas
Columbia University Medical Center New York, New York.
Julia
J
Wynn
GeneDx Gaithersburg, MD.
Eden
E
Haverfield
Columbia University Medical Center New York, New York.
Wendy K
WK
Chung
Fetal imaging; Noonan syndrome; PTPN11; genetic counseling; single gene disorders; whole exome sequencing