Molecular analysis of 53 fragile X families with the probe StB12.3.

doi:10.1002/ajmg.1320530413

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Article

Molecular analysis of 53 fragile X families with the probe StB12.3.

American journal of medical genetics - 1 Dec 1994

Puissant H, Malinge M C, Larget-Piet A, Martin D, Chauveau P, Odent S, Plessis G, Parent P, Lemarec B, Larget-Piet L

Abstract excerpt

Fifty-three pedigrees with the fragile X syndrome have been studied for amplification of the CGG repeat sequence adjacent to the CpG island in the FMR1 gene. Probe StB12.3 allowed direct detection of affected males, carrier females, normal transmitting males, as well as prenatal diagnosis. Compar...

Topics

Alleles
DNA Probes
Family Health
Female
Fragile X Syndrome
Genetic Linkage
Genetic Markers
Heterozygote
Humans
Male
Mutation
Pedigree
Pregnancy
Prenatal Diagnosis

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