title: How necessary is to analyze PTPN11 gene in fetuses with first trimester cystic hygroma and normal karyotype?
abstract: Cystic hygroma (CH) is a vascular-lymphatic malformation and can occur either as an isolated finding or as a part of a syndrome. The incidence of CH is about 1:1000-1:6000 births. Ultrasonographic diagnosis of CH is usually obtained in the first trimester, and the lesion can appear in septated or non-septated forms. Increased nuchal translucency and CH have been associated with a wide range of structural and genetic abnormalities. Most of CHs are associated with a number of chromosomal abnormalities especially Trisomy 21, 13, 18 and Turner syndrome. Besides, the associations between CH and non-chromosomal syndromes were also reported and Noonan Syndrome (NS) is one of the leading causes. Approximately 50% of NS cases are caused by mutations in the PTPN11 gene. A novel PTPN11 mutation defined in two separate fetuses with CH and associated with NS phenotype is being reported here.
authors.affiliation: a Department of Medical Genetics , Kanuni Sultan Suleyman Training and Research Hospital , Istanbul , Turkey and.
authors.forename: Alper
authors.initials: A
authors.lastname: Gezdirici
authors.affiliation: b Department of Maternal Fetal Medicine , Kanuni Sultan Suleyman Training and Research Hospital , Istanbul , Turkey.
authors.forename: Ali
authors.initials: A
authors.lastname: Ekiz
authors.affiliation: a Department of Medical Genetics , Kanuni Sultan Suleyman Training and Research Hospital , Istanbul , Turkey and.
authors.forename: Elif Yılmaz
authors.initials: EY
authors.lastname: Güleç
authors.affiliation: b Department of Maternal Fetal Medicine , Kanuni Sultan Suleyman Training and Research Hospital , Istanbul , Turkey.
authors.forename: Başak
authors.initials: B
authors.lastname: Kaya
authors.affiliation: b Department of Maternal Fetal Medicine , Kanuni Sultan Suleyman Training and Research Hospital , Istanbul , Turkey.
authors.forename: Salim
authors.initials: S
authors.lastname: Sezer
authors.affiliation: b Department of Maternal Fetal Medicine , Kanuni Sultan Suleyman Training and Research Hospital , Istanbul , Turkey.
authors.forename: Alev
authors.initials: A
authors.lastname: Atış Aydın
mesh_terms: D000025:Abortion, Eugenic; D000022:Abortion, Spontaneous / Q000235:genetics; D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis* / Q000235:genetics*; D007231:Infant, Newborn; D007621:Karyotyping; D018191:Lymphangioma, Cystic / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D009634:Noonan Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D011237:Predictive Value of Tests; D011247:Pregnancy; D011261:Pregnancy Trimester, First / Q000235:genetics; D011296:Prenatal Diagnosis / Q000379:methods; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000032:analysis / Q000235:genetics*
chemical_list: C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11
keywords: Cystic hygroma; PTPN11; RASopathy