The risk of Fragile X premutation expansion is lower in carriers detected by general prenatal screening than in carriers from known fragile X families

Genetic Testing

Volumn 4, Issue 3, 2000, Pages 289-292

  Geva, E ^c,d   Yaron, Y ^a,b,c,d   Shomrat, R ^a   Ben Yehuda, A ^a   Zabari, S ^a   Peretz, H ^a   Naiman, T ^a   Yeger, H ^a   Orr Urtreger, A ^a,b,c,d  

^a Genetic Institute   (Israel)

^b Prenatal Diagnosis Unit   (Israel)

^c TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^d TEL AVIV UNIVERSITY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; FAMILY HISTORY; FEMALE; FRAGILE X SYNDROME; GENE MUTATION; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MENTAL RETARDATION MALFORMATION SYNDROME; PRENATAL DIAGNOSIS; RISK ASSESSMENT; X CHROMOSOME LINKED DISORDER;

FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMANS; MUTATION; NERVE TISSUE PROTEINS; PREGNANCY; PRENATAL DIAGNOSIS; RISK ASSESSMENT; RNA-BINDING PROTEINS; TRINUCLEOTIDE REPEATS;

EID: 0033724988     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/10906570050501524     Document Type: Article

References (20)

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4. The fragile X syndrome
5. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n
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13. Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies
14. Examination of factors that influence the expansion of the fragile X mutation in a sample of conceptuses from known carrier females
15. Sequence analysis of a CGG sequence at the FMR1 locus in fragile X families and in general population
16. DNA methylation represses FMR1 transcription in fragile X syndrome
17. Identification of a gene (FMR1) containing CCG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
18. Fragile X syndrome: Unique genetics of the heritable unstable element
19. Fragile X gene instability: Anchoring AGGs and linked microsatellites