A double translocation culture t(5;15)t(9;11) with partial deletion of the short arm of chromosome 5

Jackson, Laird G.; Barr, Marie; Aronson, M.M.; Greene, A.E.; Coriell, Lewis L.

doi:10.1159/000130539

Cited by 7 publications

(4 citation statements)

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“…In this case, as well as six others (Bell and Warburton, 1977;Chewings et al, 1982;Kleczkowska et al, 1982;Martinetti and Noel, 1973;Pai et al, 1980;Seabirth et al, 1978), cytogenetic analysis interpreted the translocations as being apparently balanced, based on detailed banding analysis. The other five reports (Kleczkowska et al, 1982;Jackson et al, 1975;Mattei et al, 1978;Prieto et al, 1978;Turleau et al, 1981) of de now complex chromosomal rearrangements describe arrangements observed in a clearly unbalanced form.…”

Section: Discussionmentioning

confidence: 98%

“…Both translocations were found to be familial in origin, the fetus having inherited one balanced translocation from each parent; a phenotypically normal infant was later delivered. Twelve cases have been described of complex chromosomal rearrangements of de now origin (Bell and Warburton, 1977;Chewings et al, 1982;Jackson et al, 1975;Kleczkowska et al, 1982;Martinetti and Noel, 1973;Mattei et al, 1978;Pai et al, 1980;Prieto et al, 1978;Sebright et al, 1978;Stoll et al, 1979;Turleau et al, 1981). All of these cases were ascertained in phenotypically abnormal proband.…”

Section: Discussionmentioning

confidence: 99%

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Prenatal diagnosis of a de novo complex chromosomal rearrangement involving four chromosomes

et al. 1986

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A complex chromosome rearrangement, apparently a balanced translocation involving chromosomes 4, 6, 15 and 16, was found in cultured cells of amniotic fluid from a 32-year-old primigravida who requested amniocentesis for prenatal diagnosis because of a family history of mental retardation. Chromosome analysis of peripheral blood from both parents were normal. The couple was counselled for the prenatal diagnosis of this de novo complex translocation and, subsequently, elected to terminate the pregnancy. Post-mortem examination revealed a 23-week fetus with intrauterine growth retardation. The identical chromosome rearrangement was subsequently confirmed in cultured fibroblasts from skin and cord obtained from the abortus. To our knowledge, this is the first report where routine prenatal diagnosis revealed a fetus with a balanced complex chromosomal rearrangement involving four chromosomes of de novo origin.

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Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of a de novo complex chromosomal rearrangement involving four chromosomes

et al. 1986

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“…In this case, as well as in ten others (Bell and Warburton, 1977;Chewings et al, 1982;Kim et al, 1986;Kleczkowska et al, 1982;Martinetti and Noel, 1973;Pai et al, 1980;Rodriguez et al, 1985;Seabright e f al., 1978;Simoni et al, 1979;Watt and Couzin, 1983), cytogenetic analysis interpreted the translocations as being apparently balanced, based on detailed banding analysis ( Table 1). The other six reports Kleczkowska et al, 1982;Jackson et al, 1975;Mattei et al, 1978;Muneer et al, 1988;Prieto et al,., 1978) of de nctvo complex chromosomal rearrangements describe arrangements observed in a clearly unbalanced form (Table 2).…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis and postnatal follow‐up of a child with two de novo unrelated balanced reciprocal translocations

et al. 1990

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Two unrelated, apparently balanced, reciprocal translocations involving chromosomes 3 and 17, and 10 and 15 were found in cultured amniotic fluid cells from a 41-year-old 10-gravida. Chromosome analysis of peripheral blood lymphocytes of both parents revealed normal karyotypes. Post-partum examination of lymphocyte cultures from the proband confirmed the chromosome rearrangements. The child showed normal development during follow-up examinations up to the age of 4 years.

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“…In this unusual family, chromosomally normal parents produced two chromosomally abnormal offspring. Multiple structural abnormalities in one family have seldom been reported (Jackson et al 1975, Bell & Warburton 1977, Grace & Sills 1978, Simoni et al 1979, Stoll et al 1979). This is not unexpected in view of the low mutation rate for structural abnormalities (estimated by Jacobs 1977, as 2 x per gamete per generation).…”

Section: Discussionmentioning

confidence: 99%

Two different structural abnormalities of chromosome 13 in offspring of chromo‐somally normal parents with two fragile sites

Mules

Stamberg

Jabs³

et al. 1983

Clinical Genetics

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Two siblings were found with different structural abnormalities involving their maternally inherited chromosome 13. The proband exhibited a ring 13 and a small fragment: 46, XX, r(13) (pllq34), +f, while her clinically normal brother carried a dicentric Robertsonian translocation: 45, XY, dic(13;15) (pl 1;pl 1). Both parents had normal karyotypes in peripheral blood and skin fibroblasts. The structural abnormalities of chromosome 13 may be due to an unstable gonadal 13; 15 translocation in the mother. In addition, two autosomal fragile sites were segregating in this family. The mother had a fragile (16) (q22) which was inherited by the proband. The father and paternal grandmother possessed a fragile (12)(q13) which was not inherited by either child. The expression of both fragile sites was dependent on culture conditions.

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A double translocation culture t(5;15)t(9;11) with partial deletion of the short arm of chromosome 5

Cited by 7 publications

References 0 publications

Prenatal diagnosis of a de novo complex chromosomal rearrangement involving four chromosomes

Prenatal diagnosis of a de novo complex chromosomal rearrangement involving four chromosomes

Prenatal diagnosis and postnatal follow‐up of a child with two de novo unrelated balanced reciprocal translocations

Two different structural abnormalities of chromosome 13 in offspring of chromo‐somally normal parents with two fragile sites

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