The inheritance of fragile sites: apparent absence of fra(2)(q13) in the parents of three unrelated probands.
We describe the inherited folate sensitive fragile site, fra(2)(q13), in three unrelated mentally retarded children, two of them with different forms of epilepsy. Fra(2)(q13) was detected in one healthy sib of one of the probands. Except for one cell in one of the fathers, fra(2)(q13) could not be detected in any of the six parents, who were repeatedly studied using methods known to induce fragile sites of this type. These findings suggest that fra(2)(q13) is not associated with the clinical features of our patients and can be transmitted by persons not expressing it. The expression of fra(2)(q13) may be age dependent.
Department of Medical Genetics, University of Helsinki, Finland.
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L
Keskiaho
S
S
Knuutila
H
H
Pihko
A
A
Nuutila
U
U
Kaski
M
M
Koivikko
A
A
de la Chapelle
D002648:Child; D002871:Chromosome Banding; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D002889:Chromosomes, Human, Pair 2; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D005786:Gene Expression Regulation; D006580:Genetic Carrier Screening; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male