Sharland M, Morgan M, Smith G, Burch M, Patton M A
South West Thames Regional Genetic Service, St. George's Hospital Medical School, Tooting, London, United Kingdom.
Am J Med Genet. 1993 Feb 15;45(4):437-40. doi: 10.1002/ajmg.1320450407.
A clinical and echocardiographic study is presented of 117 families with Noonan syndrome. The 117 families contained 144 individuals with typical Noonan syndrome. The age range of these individuals was from one week to 45 years (mean 12.0 years). One parent was definitely affected with Noonan syndrome in only 14% of the 117 families (mother 11%, father 3%). In a further 31% of families, one parent had possible signs of Noonan syndrome, based on facial appearance only. Within the apparently sporadic group of probands there was no evidence of increased parental age. Echocardiography demonstrated no cases of subclinical cardiac disease in all first degree relatives examined, and clinical examination alone missed no case of cardiac disease. Segregation analysis of affected pedigrees confirmed autosomal dominant inheritance. If both parents had only possible or no signs of Noonan syndrome, subsequent to the birth of the first child with Noonan syndrome in a family, an empiric recurrence risk of 5% was obtained.
本文呈现了一项针对117个努南综合征家庭的临床及超声心动图研究。这117个家庭中有144名患有典型努南综合征的个体。这些个体的年龄范围从1周龄至45岁（平均12.0岁）。在这117个家庭中，仅14%的家庭中有一位家长明确患有努南综合征（母亲占11%，父亲占3%）。在另外31%的家庭中，仅根据面部外观，有一位家长有患努南综合征的可能迹象。在明显散发的先证者组中，没有证据表明父母年龄增加。超声心动图显示，在所有接受检查的一级亲属中均未发现亚临床心脏病病例，仅通过临床检查也未漏诊任何心脏病病例。对受累家系的分离分析证实了常染色体显性遗传。如果父母双方仅有患努南综合征的可能迹象或没有此类迹象，在一个家庭中首个患有努南综合征的孩子出生后，经验性复发风险为5%。
