Reproductive risk in mating between two translocation carriers: Case report and review of the literature

Tsuji, Kyoko; Narahara, Kouji; Yokoyama, Yuji; Ninomiya, Shinsuke; Yonesawa, Suguru; Hiramatsu, Yuji; Masaoka, Hiroshi; Kudo, Naofumi; Seino, Yoshiki

doi:10.1002/ajmg.1320460513

Cited by 15 publications

(10 citation statements)

References 17 publications

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“…Mating between translocation carriers has been documented in the past that can involve any combination of balanced reciprocal or Robertsonian translocations [Orye and Delire, 1967; Jacobs, 1970; de Grouchy et al, 1972; Simoni et al, 1980; Dallapiccola et al, 1983; Mulcahy and Watson, 1983; Scarbrough et al, 1984; Gilgenkrantz et al, 1985; Barros et al, 1987; Bowser‐Riley et al, 1988; Tsuji et al, 1993]. These translocations were associated with congenital abnormalities in live offspring, in reproductive failure in couples, or were identified from amniocentesis.…”

Section: Discussionmentioning

confidence: 99%

Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation

Zaki

Shehab

El‐Aleem

et al. 2007

American J of Med Genetics Pt A

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Two siblings from a consanguineous Egyptian marriage showed an identical phenotype of cortical lissencephaly with cerebellar hypoplasia, severe epilepsy, and mental retardation. Examination of karyotype revealed 46, t(7;12)(q22;p13)mat (7;12)(q22;p13)pat in both affected children, suggesting a homozygous reciprocal balanced translocation. Each healthy parent was a carrier of the balanced translocation in the heterozygous state, suggesting homozygous disruption of a gene involved in brain development. There were early spontaneous abortions in this family, as would be expected from transmission of an unbalanced chromosome. A disruption of RELN at 7q22.1 with absence of encoded protein was identified. This is the first demonstration that such rare homozygous translocations can be used to identify recessive disease gene mutations.

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Section: Discussionmentioning

confidence: 99%

Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation

Zaki

Shehab

El‐Aleem

et al. 2007

American J of Med Genetics Pt A

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“…If the arm is large, the segregants would not be expected to yield viable offspring. Unbalanced abortuses or fetuses have been documented [Ohama et al , 1978;Smith et al, 1988;Tsuji et al, 1993;Cooper et al, 19931.…”

Section: Discussionmentioning

confidence: 97%

Balanced nonacrocentric whole‐arm reciprocal translocations: A de novo case and literature review

Farrell

Fan

1995

Am. J. Med. Genet.

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We report a new de novo case of a balanced whole-arm reciprocal translocation, detected at prenatal diagnosis for late maternal age. A review of previous cases indicates there is a risk of chromosomally abnormal liveborn offspring when a parent is a carrier of this type of translocation, particularly when the translocated region is a small chromosomal segment. Due to the limited number of cases, exact reproductive risks are not available. This is the second example of such a translocation of chromosomes 1 and 5, raising the possibility of nonrandom involvement of certain chromosomes in balanced nonacrocentric whole-arm reciprocal translocations.

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“…Dispermic chimerism has been reported in two cases with structural chromosomal aberrations. One was a twin pregnancy in which the carrier of a balanced translocation t(14;20) gave birth to a stillborn dispermic male with chimerism and a 46,XY/46,XY,der(14),t(14;20) karyotype and one was a fetus from the union of two balanced translocation carriers with a normal male cell line and an abnormal female cell line containing the father's balanced translocation and an unbalanced derivative of the mother's translocation [Nyberg et al, 1992; Tsuji et al, 1993]. To our knowledge, our report describes the first case of 46,XX/46,XY chimerism with a chromosomal aneuploidy involving chromosome 14.…”

Section: Discussionmentioning

confidence: 99%

Chimerism resulting from parthenogenetic activation and dispermic fertilization

Winberg

Gustavsson

Lagerstedt‐Robinson

et al. 2010

American J of Med Genetics Pt A

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Whole-body human chimerism is the result of two zygotes giving rise to one individual, and is a rarely detected condition. We have studied the molecular background and discuss the likely mechanism for the chimerism in a patient with a 46,XX/47,XY,+14 karyotype and ambiguous genitalia, cryptorchidism, pigment anomalies, and normal psychomotor development. We have used karyotyping, interphase-FISH and array-CGH analysis as well as molecular analysis of polymorphic markers from 48 loci in order to define the origin and percentage of 47,XY,+14 cells in different tissues. Based on the findings of two paternal alleles and the detection of homozygous maternal alleles without evidence of crossing-over, and the fact that four alleles were never detected, our results indicate that the chimerism in our patient is the result of dispermic fertilization of a parthenogenetically activated oocyte. Our report underlines that cytogenetic findings suggesting mosaicism might actually indicate chimerism as an underlying mechanism in patients. It also highlights the difficulties in predicting the clinical outcome in patients with genetic aberrations in mosaic or chimeric form.

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Reproductive risk in mating between two translocation carriers: Case report and review of the literature

Cited by 15 publications

References 17 publications

Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation

Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation

Balanced nonacrocentric whole‐arm reciprocal translocations: A de novo case and literature review

Chimerism resulting from parthenogenetic activation and dispermic fertilization

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