An unusual fragile X sibship: female compound heterozygote and male with a partially methylated full mutation
Articolo
Data di Pubblicazione:
1998
Citazione:
An unusual fragile X sibship: female compound heterozygote and male with a partially methylated full mutation / S. Russo, V. Briscioli, F. Cogliati, M. Macchi, F. Lalatta, L. Larizza. - In: CLINICAL GENETICS. - ISSN 0009-9163. - 54:4(1998 Oct), pp. 309-314.
Abstract:
We describe here a fragile X sibship of borderline retarded sister and brother born to carrier parents. The sister is a compound heterozygote (with a full mutation on one X chromosome and a pre-mutation on the other X chromosome). The brother has a partially methylated full mutation. The activation ratio (AR) for the sister's pre-mutation was 0.69 and the percent lack of methylation for the brother's full mutation was 73%. Intellectual and neuropsychological Wechsler Adult Intelligence Scale (W.A.I.S.) achievement tests reported full scale IQ scores of 74 in the sister and 77 in the brother. A significant discrepancy between verbal and performance IQ was found in the sister, indicating that her main impairment was in the cognitive area. The parents of this unusual sibship came from a small village, as did one of the two previously described cases of compound heterozygous females. These rare females raise special issues for genetic counselling in fragile X carrier couples, the frequency of which remains to be defined in different populations.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Pedigree; Sex Factors; Humans; Nuclear Family; Fragile X Syndrome; Trinucleotide Repeat Expansion; Nerve Tissue Proteins; Intelligence; X Chromosome; RNA-Binding Proteins; Heterozygote; Chromosome Fragility; DNA; Fragile X Mental Retardation Protein; Neuropsychological Tests; Mutation; Methylation; Female; Male; Cytogenetics; Intelligence Tests
Elenco autori:
S. Russo, V. Briscioli, F. Cogliati, M. Macchi, F. Lalatta, L. Larizza
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