Welch J L, Williams J K
Regional Genetic Consultation Clinics, Iowa City, Iowa, USA.
Neonatal Netw. 1999 Sep;18(6):15-22. doi: 10.1891/0730-0832.18.6.15.
Fragile X syndrome is the most common inherited condition causing mental retardation in males. Females with the full mutation expansion can have milder signs of the disorder. Families with members who have been diagnosed with fragile X syndrome face concerns about the health of their newborn infant, decisions regarding family planning, and questions about the possibility that other family members could have this disorder. Neonatal nurses participate in assessment, health care management, counseling, and referral of the families regarding this syndrome.
脆性X综合征是男性中最常见的导致智力发育迟缓的遗传性疾病。具有完全突变扩展的女性可能有较轻微的病症迹象。家庭成员被诊断患有脆性X综合征的家庭面临着对新生儿健康的担忧、计划生育方面的决策以及其他家庭成员是否可能患有该疾病的疑问。新生儿护士参与对这些家庭关于该综合征的评估、医疗保健管理、咨询和转诊工作。
