Turner's syndrome with a duplication‐deficiency X chromosome derived from a maternal pericentric inversion X chromosome

Abstract

A 31‐year‐old woman of short stature with severe oligomenorrhea was found to carry a duplication‐deficiency X chromosome, 46, X, rec(X)dup q, inv(X)(p22qll), inherited from her mother who carried a pericentric inversion X chromosome, 46, X, inv(X)(p22qll). By a combination of autoradiography and BUdR incorporation, the duplication‐deficiency X chromosome was always found to be the inactive and late replicating one. In the cultured fibroblasts with the recombinant X chromosome, some of the cells were seen to have bipartite X chromatin bodies. In the mother with inv(X), the normal and the inverted X chromosome were inactivated at random.

Familial transmission of a duplication‐deficiency X chromosome associated with partial Turner syndrome

“…Various modes of origin have been proposed to explain this type of X rearrangement, such as X;X translocation and unequal crossing-over in a pericentric inversion loop during the first meiotic division in a preceding generation (Kim et al 1974, Maeda et al 1979. Neither of these mechanisms of formation can be excluded in the present case, and since the abnormal chromosome is compatible with reproduction, it could have arisen in a generation previous to that of the mother.…”

Recombinant X chromosome in a prenatal diagnosis

“…In contrast, a review of the 14 cases with similar recombinant X chromosomes was intriguing (Kim et al, 1974;Laurent et al, 1975;Maeda et al, 1979;Sacchi et al, 1980;Buckton et al, 1981;Nielsen et al, 1982;Duckett and Young, 1988;Aller et al, 1995). The phenotypic manifestations in females with these chromosomal rearrangements are variable, regarding psychosomatic development and reproductive ability (see Table 1 ).…”

Familial occurrence of isodicentric X chromosomes with different breakpoints

“…Familial occurrence of Turner's syndrome is very rare (Boczkowski 1968, Leichtman et al 1978, Maeda et al 1979. Most reports on familial structural X chormosomal aberrations in Turner's syndrome may be secondary to translocations or inversions.…”