Who should be tested for fragile X carriership? A review of 1 center's pedigrees

Krishna Rajendra, Jay J. Bringman, Jewel Ward, Owen Phillips

Research output: Contribution to journalArticle

2 Citations (Scopus)

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. Study Design: 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. Conclusion: 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.

Original languageEnglish (US)
JournalAmerican Journal of Obstetrics and Gynecology
Volume198
Issue number5
DOIs
StatePublished - May 1 2008

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Pedigree
Intellectual Disability
Guidelines
Fragile X Syndrome
Autistic Disorder
Hearing
Databases

All Science Journal Classification (ASJC) codes

  • Obstetrics and Gynecology

Cite this

Who should be tested for fragile X carriership? A review of 1 center's pedigrees. / Rajendra, Krishna; Bringman, Jay J.; Ward, Jewel; Phillips, Owen.

In: American Journal of Obstetrics and Gynecology, Vol. 198, No. 5, 01.05.2008.

Research output: Contribution to journalArticle

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