Gezdirici Alper, Ekiz Ali, Güleç Elif Yılmaz, Kaya Başak, Sezer Salim, Atış Aydın Alev
a Department of Medical Genetics , Kanuni Sultan Suleyman Training and Research Hospital , Istanbul , Turkey and.
b Department of Maternal Fetal Medicine , Kanuni Sultan Suleyman Training and Research Hospital , Istanbul , Turkey.
J Matern Fetal Neonatal Med. 2017 Apr;30(8):938-941. doi: 10.1080/14767058.2016.1191463. Epub 2016 Jun 8.
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.
囊状水瘤（CH）是一种血管淋巴管畸形，可单独出现或作为综合征的一部分出现。CH的发病率约为1:1000 - 1:6000活产儿。CH的超声诊断通常在孕早期进行，病变可呈分隔或非分隔形式。颈项透明层增厚与CH与多种结构和基因异常有关。大多数CH与多种染色体异常相关，尤其是21 - 三体、13 - 三体、18 - 三体和特纳综合征。此外，也有CH与非染色体综合征之间关联的报道，努南综合征（NS）是主要病因之一。约50%的NS病例由PTPN11基因突变引起。本文报道了在两个患有CH并伴有NS表型的独立胎儿中发现的一种新的PTPN11突变。
