Molecular and cytogenetic analysis of the fragile X syndrome in a series of 453 mentally retarded subjects: A study of 87 families

American Journal of Medical Genetics

Volumn 64, Issue 1, 1996, Pages 176-180

  Perroni, L ^a   Grasso, M ^a   Argusti, A ^a   Lo Nigro, C ^a   Croci, G F ^b   Zelante, L ^c   Garani, G P ^d   Dagna Bricarelli, F ^a  

^a GALLIERA HOSPITAL   (Italy)

^b Laboratorio di Genetica   (Italy)

^c Ospedale Generale CSS   (Italy)

^d UNIVERSITY OF FERRARA   (Italy)

Author keywords

atypical cases; DNA diagnosis; fragile X; mosaics

Indexed keywords

ALLELE; ARTICLE; CYTOGENETICS; DNA DETERMINATION; FEMALE; FRAGILE X SYNDROME; GENE MUTATION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MOLECULAR GENETICS; MOSAICISM; PRIORITY JOURNAL;

CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; FEMALE; FRAGILE X SYNDROME; HETEROZYGOTE DETECTION; HUMANS; MALE; MENTAL RETARDATION; MOSAICISM; NUCLEIC ACID HYBRIDIZATION; PREGNANCY;

EID: 0029996847     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960712)64:1<176::AID-AJMG30>3.0.CO;2-I     Document Type: Article

References (12)

1. Kaplan G, Kung M, McClure M, Cronister A (1994): Direct mutation analysis of 495 patients for fragile X carrier status/proband diagnosis. Am J Med Genet 51:501-502.
2. Kremer EJ, Pritchard M, Lynch M, Yu S, Holman K, Baker E, Warren ST, Schlessinger D, Sutherland GR, Richards RI (1991): Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science 252:1711-1714.
3. Moutou C, Cossee M, Biancalana V, Bouix JC, Plessis G, Croquette MF, Mandel JL (1995): Three years of molecular diagnosis of fragile X syndrome. Abstracts of the 7th International Workshop on Fragile X and X-Linked Mental Retardation. Tromsø, Norway, August 2-5, 1995.
4. Oberlé I, Rousseau F, Heitz D, Kretz C, Devys S, Hanauer A, Boué J, Bertheas MF, Mandel JL (1991): Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252:1097-1102.
5. Rousseau F, Heitz D, Biancalana V, Blumenfeld S, Kretz C, Boué J, Tommerup N, van der Hagen C, de Lozier-Blancthet C, Croquette MF, Gilgenkrantz S, Jalbert P, Voelckel MA, Oberlé I, Mandel JL (1991): Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med 325:1673-1681.
6. Rousseau F, Heitz D, Tarleton J, MacPherson J, Malmgren H, Dahl N, Barnicoat A, Mathew C, Mornet E, Tejada I, Maddalena A, Spiegel R, Schinzel A, Marcos JAG, Schorderet DF, Schaap T, Maccioni L, Russo S, Jacobs PA, Mandel JL (1994): A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: The first 2,253 cases. Am J Hum Genet 55:225-237.
7. Ryynänen M, Pulkkinnen L, Kirkinen P, Saarikoski S (1994): Fragile X syndrome in East Finland: Molecular approach to genetic and prenatal diagnosis. Am J Med Genet 51:463-465.
8. Turner G, Laing S, Robinson H, Wake S, Wright F (1996): The prevalence of the fragile X syndrome in NSW prior to counselling of female at risk. Am J Med Genet 64:196-197.
9. van den Ouweland AMW, de Vries BBA, Bakker LG, Deelen LG, de Graaff E, van Hemel JO, Oostra BA, Niermeijer MF, Halley DJJ (1994): DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence foe a reversal of mutation in the FMR-1 gene. Am J Med Genet 51:482-485.
10. Verkerk AJMH, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DPA, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang F, Eussen BE, Van Ommen GJB, Blonden LAJ, Riggins GJ, Chastain JL, Kunst CB, Galjaard H, Caskey CT, Nelson DL, Oostra BA, Warren ST (1991): Identification of a gene (FMR-1) containing a CGG repeats coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65:905-914.
11. Wang Q, Green E, Bobrow M, Mathew CG (1995): A rapid, non-radioactive screening test for fragile X mutations at the FRAXA and FRAXE loci. J Med Genet 32:170-173.
12. Willemsen R, Mohkamsing S, De Vries B, Devys D, van den Ouweland A (1995): Rapid antibody test for fragile X syndrome. Lancet 345:1147-1148.