title: Who should be tested for fragile X carriership? A review of 1 center's pedigrees.
abstract: OBJECTIVE
  To determine whether following American College of Obstetricians and Gynecologists and American College of Medical Genetics recommendations would have detected carriers in pedigrees of patients diagnosed with fragile X.
  
  
  METHODS
  Using a database of patients referred to the UT genetics clinic for evaluation of fragile X, pedigrees of cases of fragile X syndrome were analyzed.
  
  
  RESULTS
  Eight of 17 cases identified had a family history of unexplained mental retardation (MR) or fragile X MR and would have been diagnosed using current guidelines. Other findings noted in the pedigrees included autism, speech or hearing problems, attention deficit hyperactivity syndrome and behavioural disorders. No risk factors were found in 4 cases.
  
  
  CONCLUSIONS
  Using current guidelines, less than one half of fragile X carriers would have been identified during a prenatal assessment. Using other risk factors in screening would likely increase carrier detection rate.
authors: Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of Tennesse Health Science Center, Memphis, TN 38103, USA.
authors: Krishna
authors: K
authors: Rajendra
authors: Jay J
authors: JJ
authors: Bringman
authors: Jewel
authors: J
authors: Ward
authors: Owen P
authors: OP
authors: Phillips
mesh_terms: D000328:Adult; D000649:Amniocentesis; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics*; D006580:Genetic Carrier Screening; D006801:Humans; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012307:Risk Factors