Prenatal diagnosis of <i>de novo</i> X;autosome translocations

Abstract excerpt

The identification of a de novo apparently balanced structural chromosome rearrangement at prenatal diagnosis can be problematic and raises unique genetic counseling issues. Two breakpoint rearrangements such as reciprocal translocations or inversions have a 6.7% empiric risk of phenotypic abnormality. Abnormal phenotypes are thought to result from gene disruption, position effect, or deletion at one of the...

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