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Article

An unusual fragile X sibship: female compound heterozygote and male with a partially methylated full mutation.

Clinical genetics - 1 Oct 1998

Russo S, Briscioli V, Cogliati F, Macchi M, Lalatta F, Larizza L

Abstract excerpt

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...

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Source

Identifiers

PMID: 9831342
DOI: 10.1034/j.1399-0004.1998.5440408.x

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