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A fragile X male with a broad smear on Southern blot analysis representing 100-500 CGG repeats and no methylation at the EagI site of the FMR-1 gene.

Publication ,  Journal Article
Lachiewicz, AM; Spiridigliozzi, GA; McConkie-Rosell, A; Burgess, D; Feng, Y; Warren, ST; Tarleton, J
Published in: Am J Med Genet
August 9, 1996

Fragile X DNA studies were carried out on all obligate carriers of a large fragile X family with 10 mentally retarded individuals. One 64-year-old carrier man with an altered FMR-1 allele was not described as being mentally retarded or as having any limitations in function. He was married, raised 8 children, and worked as an auto mechanic. On examination, he had macrocephaly and mild macroorchidism but few of the other typical physical findings of males with fragile X syndrome. His Full Scale IQ is 73, and his Vineland Adaptive Behavior Composite is 73. On the Woodcock-Johnson Psycho-Educational Battery-Revised, he achieved standard scores of 64 in Reading, 55 in Math, and 83 in Knowledge. His DNA findings showed a broad smear on Southern blot analysis of 100-500 CGG repeats and no methylation at the EagI site upstream of the FMR-1 protein coding region. His FMR-1 protein production is 12% of normal. His daughters all have large premutations, with somatic instability in the size of the CGG repeat lengths. They all have evidence of academic underachievement and 2 have physical characteristics frequently described in individuals with fragile X.

Duke Scholars

Published In

Am J Med Genet

DOI

ISSN

0148-7299

Publication Date

August 9, 1996

Volume

64

Issue

2

Start / End Page

278 / 282

Location

United States

Related Subject Headings

  • Trinucleotide Repeats
  • Restriction Mapping
  • Pedigree
  • Middle Aged
  • Male
  • Intellectual Disability
  • Humans
  • Genetic Carrier Screening
  • Fragile X Syndrome
  • Female
 

Citation

APA
Chicago
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MLA
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Lachiewicz, A. M., Spiridigliozzi, G. A., McConkie-Rosell, A., Burgess, D., Feng, Y., Warren, S. T., & Tarleton, J. (1996). A fragile X male with a broad smear on Southern blot analysis representing 100-500 CGG repeats and no methylation at the EagI site of the FMR-1 gene. Am J Med Genet, 64(2), 278–282. https://doi.org/10.1002/(SICI)1096-8628(19960809)64:2<278::AID-AJMG9>3.0.CO;2-Q
Lachiewicz, A. M., G. A. Spiridigliozzi, A. McConkie-Rosell, D. Burgess, Y. Feng, S. T. Warren, and J. Tarleton. “A fragile X male with a broad smear on Southern blot analysis representing 100-500 CGG repeats and no methylation at the EagI site of the FMR-1 gene.Am J Med Genet 64, no. 2 (August 9, 1996): 278–82. https://doi.org/10.1002/(SICI)1096-8628(19960809)64:2<278::AID-AJMG9>3.0.CO;2-Q.
Lachiewicz AM, Spiridigliozzi GA, McConkie-Rosell A, Burgess D, Feng Y, Warren ST, et al. A fragile X male with a broad smear on Southern blot analysis representing 100-500 CGG repeats and no methylation at the EagI site of the FMR-1 gene. Am J Med Genet. 1996 Aug 9;64(2):278–82.
Lachiewicz, A. M., et al. “A fragile X male with a broad smear on Southern blot analysis representing 100-500 CGG repeats and no methylation at the EagI site of the FMR-1 gene.Am J Med Genet, vol. 64, no. 2, Aug. 1996, pp. 278–82. Pubmed, doi:10.1002/(SICI)1096-8628(19960809)64:2<278::AID-AJMG9>3.0.CO;2-Q.
Lachiewicz AM, Spiridigliozzi GA, McConkie-Rosell A, Burgess D, Feng Y, Warren ST, Tarleton J. A fragile X male with a broad smear on Southern blot analysis representing 100-500 CGG repeats and no methylation at the EagI site of the FMR-1 gene. Am J Med Genet. 1996 Aug 9;64(2):278–282.

Published In

Am J Med Genet

DOI

ISSN

0148-7299

Publication Date

August 9, 1996

Volume

64

Issue

2

Start / End Page

278 / 282

Location

United States

Related Subject Headings

  • Trinucleotide Repeats
  • Restriction Mapping
  • Pedigree
  • Middle Aged
  • Male
  • Intellectual Disability
  • Humans
  • Genetic Carrier Screening
  • Fragile X Syndrome
  • Female