Familial Mosaicism Attributable to a New Gene

Zellweger, H; Abbo, G

doi:10.1016/s0140-6736(65)91588-6

Cited by 42 publications

(12 citation statements)

References 5 publications

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“…The first case, reported by Zellweger and Abbo (1965), detailed the case of a girl with Down syndrome involving four different cell lines, with balanced and unbalanced Robertsonian translocations involving D and G chromosomes. The majority of cases cited in the literature fall into this category of multiple Robertsonian translocations (Atkins and Barsocas 1974;Vianna-Morgante and Nunesmaia 1978;Anderson et al 1979;Lieber and Shah 1982;Tharapel et al 1984;Al-Awadi et al 1986;Clarke et al 1989;Wells et al 1991;LS Jenkins, personal communication).…”

Section: Discussionmentioning

confidence: 99%

A jumping Robertsonian translocation: a molecular and cytogenetic study

et al. 1996

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We report a patient with mosaicism for two different Robertsonian translocations, both involving chromosome 21. She carries an unbalanced cell line with an i(21q) and a balanced cell line with a rob(21q22q). She is phenotypically normal but has two children who inherited the i(21q) and have Down syndrome. We demonstrate that both abnormal chromosomes are dicentric and that the proband's 21/21 rearrangement is an isochromosome formed from a maternally derived chromosome 21. We propose a model in which the i(21q) is the progenitor rearrangement in the proband, which subsequently participated in a nonreciprocal rearrangement characteristic of a jumping translocation. In addition, we review other cases of constitutional mosaicism involving jumping translocations.

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Section: Discussionmentioning

confidence: 99%

A jumping Robertsonian translocation: a molecular and cytogenetic study

et al. 1996

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“…Several reports involve DS [Zellweger and Abbo, 1965;Atkins and Bartsocas, 1974;Vianna-Morgante and Nunesmaia, 1978;Lieber and Shah, 1982;Tharapel et al, 1984;Clarke et al, 1989;Leal -Garza et al, 1996]. Because of a Robertsonian (rob) JT that included a rob(21q;21q), trisomy 21 was one of the mosaic lines or an inherited rob JT, for example, a balanced rob (13;14) in the father and extra 21 due to rob(14;21) in the propositus [Mattina et al, 1991].…”

Section: Postnatalmentioning

confidence: 99%

“…Although, the term ''jumping translocation'' was coined by Lejeune et al [1979] for a rearrangement 46,XY,t(5;15)(p15.3;q12)/46,XY,t(8;15)(q24.3;q12)/ 46,XY,t(12;15)(q24.3;q12) seen in a child with Prader-Willi syndrome (PWS), the first case matching this definition was reported by Zellweger and Abbo [1965]. They described four different cell lines containing balanced and unbalanced Robertsonian translocations, involving D-and G-group chromosomes, in a girl with Down syndrome (DS).…”

Section: Introductionmentioning

confidence: 99%

The conundrum of a jumping translocation (JT) in CVS from twins and review of JTs

Reddy

2010

American J of Med Genetics Pt A

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Jumping translocations (JTs) are rare constitutional or acquired rearrangements involving a donor and several receiver chromosomes. They may be inherited or de novo. JTs can be found as a cultural artifact, in normal individuals or in pathological conditions. The clinical consequences range from spontaneous abortion, loss of fetus, chromosome syndrome, congenital abnormalities, and infertility to malignancy. Considering the breakpoints of JTs, they are localized predominantly in repeat regions such as pericentromeric, centromeric, subtelomeric, telomeric, and occasionally interstitial regions that may be in a low copy repeats (LCR) or in a telomere like sequence. Differences between the constitutional and acquired JTs donor breakpoints suggest an independent mechanism in their formation. In this review, a new JT involving a donor chromosome 18p10qter and recipients 17q25qter or 1q25qter found by CVS of a twin pregnancy is described. This case illustrates the diagnostic challenges posed by JTs.In this study, our knowledge on JTs is consolidated to improve identification, management, and counseling.

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“…Tzoneva-Maneva, Bosajieva, and Petrov (1966) observed mosaicism XY/XYY in a father and his son affected by an idiopathic hypertrophic osteoarthropathy. Zellweger and Abbo (1965) reported a family with one mosaic XO/XY and three mosaics for a balanced translocation D/D in three different generations.…”

Section: Discussionmentioning

confidence: 99%