Fragile X syndrome.
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.
Welch
J L
JL
Regional Genetic Consultation Clinics, Iowa City, Iowa, USA.
Williams
J K
JK
D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000451:nursing* / Q000523:psychology; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D017283:Neonatal Nursing / Q000379:methods*; D010290:Parents / Q000193:education / Q000523:psychology; D010353:Patient Education as Topic; D010375:Pedigree; D012017:Referral and Consultation; D012307:Risk Factors; D012944:Social Support