Paternal Robertsonian translocation t(13q;14q) and maternal reciprocal translocation t(7p;13q) in a couple with repeated fetal loss.

Scarbrough, P R; Carroll, AJ; Younger, J. Benjamin; Finley, S C

doi:10.1136/jmg.21.6.463

Cited by 5 publications

(2 citation statements)

References 8 publications

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“…There are also case reports of both the partners of a couple having balanced translocations 23 . We did not come across any such couples in our study.…”

Section: Discussionmentioning

confidence: 99%

Reproductive outcome of couples with recurrent miscarriage and balanced chromosomal abnormalities

Kochhar

Ghosh

2012

J of Obstet and Gynaecol

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“…There are also case reports of both the partners of a couple having balanced translocations 23 . We did not come across any such couples in our study.…”

Section: Discussionmentioning

confidence: 99%

Reproductive outcome of couples with recurrent miscarriage and balanced chromosomal abnormalities

Kochhar

Ghosh

2012

J of Obstet and Gynaecol

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

et al. 1993

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We conducted a study to determine the reproductive risk in a couple who were translocation carriers. This couple, who carried balanced reciprocal translocations, experienced habitual abortions. The wife had a karyotype of 46,XX,t(7;13)(p15.3;q12.3) and the husband of 46,XY,t(1;7)(p11.1;p11.1). Chromosome study of their fourth abortus demonstrated a chimera consisting of two cell lines with a 46,XY and a 46,XX,t(1;7)(p11.1;p11.1)pat, -13, + der(7)t(7;13)(p15.3;q12.3)mat, karyotype. A review of the literature indicates that the risk of having unbalanced live offspring or of spontaneous abortion/stillborns is similar in couples in whom both were translocation carriers and in couples in whom one individual was a translocation carrier. The apparent lack of increased reproductive failure may result from the selective disadvantage of aneusomic gametes at fertilization or very early spontaneous abortions of unbalanced conceptuses.

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Paternal Robertsonian translocation t(13q;14q) and maternal reciprocal translocation t(7p;13q) in a couple with repeated fetal loss.

Cited by 5 publications

References 8 publications

Reproductive outcome of couples with recurrent miscarriage and balanced chromosomal abnormalities

Reproductive outcome of couples with recurrent miscarriage and balanced chromosomal abnormalities

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

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

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