title: Linkage analysis of the Rett syndrome using human chromosomal specific probes.
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.
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D004247:DNA / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D019965:Neurocognitive Disorders / Q000235:genetics*; D012729:Sex Chromosome Aberrations / Q000235:genetics; D013239:Stereotyped Behavior; D013577:Syndrome; D014960:X Chromosome
chemical_list: D005819:Genetic Markers; D004247:DNA