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Newborn, carrier, and early childhood screening recommendations for fragile X.

Publication ,  Journal Article
Abrams, L; Cronister, A; Brown, WT; Tassone, F; Sherman, SL; Finucane, B; McConkie-Rosell, A; Hagerman, R; Kaufmann, WE; Picker, J; Coffey, S ...
Published in: Pediatrics
December 2012

Fragile X syndrome, diagnosed by Fragile X Mental Retardation 1 (FMR1) DNA testing, is the most common single-gene cause of inherited intellectual disability. The expanded CGG mutation in the FMR1 gene, once thought to have clinical significance limited to fragile X syndrome, is now well established as the cause for other fragile X-associated disorders including fragile X-associated primary ovarian insufficiency and fragile X-associated tremor ataxia syndrome in individuals with the premutation (carriers). The importance of early diagnostic and management issues, in conjunction with the identification of family members at risk for or affected by FMR1 mutations, has led to intense discussion about the appropriate timing for early identification of FMR1 mutations. This review includes an overview of the fragile X-associated disorders and screening efforts to date, and discussion of the advantages and barriers to FMR1 screening in newborns, during childhood, and in women of reproductive age. Comparison with screening programs for other common genetic conditions is discussed to arrive at action steps to increase the identification of families affected by FMR1 mutations.

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Published In

Pediatrics

DOI

EISSN

1098-4275

Publication Date

December 2012

Volume

130

Issue

6

Start / End Page

1126 / 1135

Location

United States

Related Subject Headings

  • Trinucleotide Repeats
  • Tremor
  • Sex Factors
  • Referral and Consultation
  • Primary Ovarian Insufficiency
  • Polymerase Chain Reaction
  • Pediatrics
  • Patient Care Team
  • Neonatal Screening
  • Models, Genetic
 

Citation

APA
Chicago
ICMJE
MLA
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Abrams, L., Cronister, A., Brown, W. T., Tassone, F., Sherman, S. L., Finucane, B., … Berry-Kravis, E. (2012). Newborn, carrier, and early childhood screening recommendations for fragile X. Pediatrics, 130(6), 1126–1135. https://doi.org/10.1542/peds.2012-0693
Abrams, Liane, Amy Cronister, William T. Brown, Flora Tassone, Stephanie L. Sherman, Brenda Finucane, Allyn McConkie-Rosell, et al. “Newborn, carrier, and early childhood screening recommendations for fragile X.Pediatrics 130, no. 6 (December 2012): 1126–35. https://doi.org/10.1542/peds.2012-0693.
Abrams L, Cronister A, Brown WT, Tassone F, Sherman SL, Finucane B, et al. Newborn, carrier, and early childhood screening recommendations for fragile X. Pediatrics. 2012 Dec;130(6):1126–35.
Abrams, Liane, et al. “Newborn, carrier, and early childhood screening recommendations for fragile X.Pediatrics, vol. 130, no. 6, Dec. 2012, pp. 1126–35. Pubmed, doi:10.1542/peds.2012-0693.
Abrams L, Cronister A, Brown WT, Tassone F, Sherman SL, Finucane B, McConkie-Rosell A, Hagerman R, Kaufmann WE, Picker J, Coffey S, Skinner D, Johnson V, Miller R, Berry-Kravis E. Newborn, carrier, and early childhood screening recommendations for fragile X. Pediatrics. 2012 Dec;130(6):1126–1135.

Published In

Pediatrics

DOI

EISSN

1098-4275

Publication Date

December 2012

Volume

130

Issue

6

Start / End Page

1126 / 1135

Location

United States

Related Subject Headings

  • Trinucleotide Repeats
  • Tremor
  • Sex Factors
  • Referral and Consultation
  • Primary Ovarian Insufficiency
  • Polymerase Chain Reaction
  • Pediatrics
  • Patient Care Team
  • Neonatal Screening
  • Models, Genetic