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. 1985;7(3):361-4.
doi: 10.1016/s0387-7604(85)80045-0.

Linkage analysis of the Rett syndrome using human chromosomal specific probes

M Anvret, I M Johansson, J Wahlström, B Hagberg

Linkage analysis of the Rett syndrome using human chromosomal specific probes

M Anvret et al. Brain Dev. 1985.

Abstract

Restriction fragment length polymorphic (RFLP) human DNA probes have been used for linkage analysis in families with the Rett syndrome. A cytogenetic marker could be detected in 6 out of 14 cases of the Rett syndrome in the region of Xp22, and a deletion was seen in one severe case. Informative results were obtained with two of the chromosomal specific DNA probes, 99.6 and D2, in two different families.

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