Abstract
Extract: This paper reports a family possessing a presumptive D/E translocation in which only the short arm of each chromosome is involved. Karyotypes of the propositus, his mother and sister were abnormal, evidencing an obvious satellited member among the chromosomes of pairs No. 17-18. This marker chromosome was often found at the periphery of the metaphase plate and entered into satellite associations with the other satellited acrocentrics. In addition to the E group marker, one D group element in these individuals appeared to possess a ‘knobby’ short arm and could be identified in almost all cells. This chromosome did not show satellite association with the other acrocentric chromosomes. The most likely interpretation of the karyotypic finding in this case is that of a balanced reciprocal translocation involving the short arm of a D and E group chromosome.
Speculation: Single cases such as this illustrate the problem of a relation between karyotypic abnormality and phenotypic deviation. That the chromosomal anomaly is etiologically related to the physical condition of the propositus is a moot question. Normal individuals in the same family with an identical karyotypic anomaly emphasize the need for future studies of the general population and additional cases with similar conditions before postulating direct causality.
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Cohen, M., Lockwood, M. Familial Transmission of a Presumptive D/E (13–15/17–18) Short Arm Translocation. Pediatr Res 1, 104–109 (1967). https://doi.org/10.1203/00006450-196703000-00003
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DOI: https://doi.org/10.1203/00006450-196703000-00003