Whole‐arm t (X;17) (Xp17q;Xq17p) and gonadal dysgenesis

We reviewed 122 cases of balanced X-autosome translocations in females, with respect to the X inactivation pattern, the position of the X break point and the resulting phenotype. In 77% of the patients the translocated X chromosome was early replicating in all cells analysed. The break points in these cases were distributed all along the X chromosome. Most of these patients were either phenotypically normal or had gonadal dysgenesis, some had single gene disorders, and less than 9% had multiple congenital anomalies and/or mental retardation. In the remaining 23% of the cases the translocated X chromosome was late replicating in a proportion of cells. In these cells only one of the translocation products was reported to replicate late, while the remaining portion of the X chromosome showed the same replication pattern as the homologous part of the active, structurally normal X chromosome. The analysis of DNA methylation in one of these cases confirmed noninactivation of the translocated segment. Consequently, these cells were functionally disomic for a part of the X chromosome. The presence of disomic cells was highly prevalent in translocations with break points at Xp22 and Xq28, even though spreading of X inactivation onto the adjacent autosomal segment was noted in most of these cases. This suggests that selection against cells with a late replicating translocated X is driven predominantly by a functional disomy X, and that the efficiency of this process depends primarily on the position of the X break point, and hence the size of the noninactivated region.(ABSTRACT TRUNCATED AT 250 WORDS)

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Balanced nonacrocentric whole‐arm reciprocal translocations: A de novo case and literature review

Farrell

Fan

1995

Am. J. Med. Genet.

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We report a new de novo case of a balanced whole-arm reciprocal translocation, detected at prenatal diagnosis for late maternal age. A review of previous cases indicates there is a risk of chromosomally abnormal liveborn offspring when a parent is a carrier of this type of translocation, particularly when the translocated region is a small chromosomal segment. Due to the limited number of cases, exact reproductive risks are not available. This is the second example of such a translocation of chromosomes 1 and 5, raising the possibility of nonrandom involvement of certain chromosomes in balanced nonacrocentric whole-arm reciprocal translocations.

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Whole‐arm t (X;17) (Xp17q;Xq17p) and gonadal dysgenesis

Abstract: A 19‐year‐old female patient with gonadal dysgenesis and a de novo t(X;17) (Xp17q;Xq17p) is described. Since the critical segment Xq13 → q26 was intact, this case is a further exception to the critical region hypothesis.

Cited by 6 publications

References 9 publications

Balanced X;3 translocation associated with gonadal dysgenesis: Clinical report and review

Balanced X;3 translocation associated with gonadal dysgenesis: Clinical report and review

Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X‐autosome translocations: A review of 122 cases

Balanced nonacrocentric whole‐arm reciprocal translocations: A de novo case and literature review

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