1979
DOI: 10.1007/bf00321018
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Two cases of familial paracentric inversion in man associated with sex chromosome anomaly

Abstract: A paracentric inversion of chromosome 5 was detected after RHG banding in a subject affected by Klinefelter's syndrome. The inversion was also observed in the patient's mother, and was confirmed by QFQ- and RBA-banding techniques. A second paracentric inversion affecting chromsome 7 was detected in a woman with Turner's syndrome. The same structural anomaly was found in her father and her half-brother. The possible relationship between sex chromosome nondisjunction and paracentric inversion is discussed. Furth… Show more

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Cited by 31 publications
(16 citation statements)
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“…In cytogenetic studies of human families with chromosomal anomalies, researchers have often encountered cases in which car riers with balanced rearrangements had offspring with numerical changes, such as trisomy 21 and sex-chromosomal aneuploidy, unrelated to the parental rearrangements (Oikawa et al, 1977;Stoll et al, 1978;Canki and Dutrillaux, 1979). From such cases, a number of authors have suggested the possibility of an "interchro mosomal effect" in humans, a concept which was first introduced by studies of Drosophila melanogaster (Sturtevant.…”
mentioning
confidence: 99%
“…In cytogenetic studies of human families with chromosomal anomalies, researchers have often encountered cases in which car riers with balanced rearrangements had offspring with numerical changes, such as trisomy 21 and sex-chromosomal aneuploidy, unrelated to the parental rearrangements (Oikawa et al, 1977;Stoll et al, 1978;Canki and Dutrillaux, 1979). From such cases, a number of authors have suggested the possibility of an "interchro mosomal effect" in humans, a concept which was first introduced by studies of Drosophila melanogaster (Sturtevant.…”
mentioning
confidence: 99%
“…Empirical studies have suggested the presence of an interchromosomal effect in chromosomal rearrangement carriers who produce children who are aneuploid for a chromosome not involved in the rearrangement (Canki and Dutrillaux 1979;Fryns and Van den Berghe 1980;Kaiser 1984;Serra et al 1990). However, these anecdotal reports could be the result of an ascertainment bias.…”
Section: Discussionmentioning
confidence: 99%
“…Since each pair of homologues must have at least one chiasma for appropriate chromosome segregation (Hawley 1988), this asynaptic region may lead to heterosynapsis between the unpaired chromosome region and another chromosomal bivalent within the same cell, leading to aneuploid gametes (Guitart et al 1987;Saadallah and Hulten 1986). Empirical studies suggest that there is an increased likelihood of producing an aneuploid child if a parent is a carrier of a rearranged chromosome (Canki and Dutrillaux 1979;Fryns and Van den Berghe 1980;Watt et al 1986). However, the large sample sizes required to assess an interchromosomal effect adequately have rarely been accomplished.…”
Section: Introductionmentioning
confidence: 96%
“…Human chromosome pathology and evolution appear to be very closely interrelated. In this light, pathological chromo some rearrangements may be the consequence of an ongoing chromosome evolution (Canki andDutrillaux, 1979: Dutril laux. 1979;H aafand Schmid.…”
Section: Discussionmentioning
confidence: 99%