PMC:1852721 / 47017-48128 JSONTXT

{"project":"2_test","denotations":[{"id":"17357067-1163534-2054061","span":{"begin":944,"end":948},"obj":"1163534"},{"id":"17357067-100151-2054062","span":{"begin":950,"end":952},"obj":"100151"},{"id":"17357067-6881776-2054063","span":{"begin":991,"end":994},"obj":"6881776"}],"text":"De novo reciprocal autosomal translocations also can provide information on the chromosomal site of autosomal Mendelian disorders or specific autosomal genes. Single cases of de novo autosome-autosome translocation are less informative than are single cases of X-autosome translocation, because either autosome can be the site of the gene disrupted by the chromosome break, or perhaps the phenotype may be the result of a fusion gene—for example, a joining of the promoter region of one gene and the coding region of the other. The occurrence of two or more reciprocal translocations that involve the same chromosome as one of the partners and involve the same chromosome band establishes the site of the gene of interest. For example, in the case of type II (ankyrin-related) hereditary spherocytosis (MIM +182900), the disorder was mapped to 8p by the discovery of a family with an apparently balanced translocation between chromosomes 8 and 1246, 47 and another between chromosomes 3 and 848; in each family, spherocytosis segregated with the balanced translocation, and the break in 8p was at the same site."}