Preimplantation genetic diagnosis (PGD) for extremes—successful birth after PGD for a consanguineous couple carrying an identical balanced reciprocal translocation

Beyazyurek, C.; Ekmekçi, Cumhur Gökhan; Saglam, Yaman; Çınar, Çiğdem; Kahraman, Semra

doi:10.1016/j.fertnstert.2009.12.032

Cited by 10 publications

(12 citation statements)

References 23 publications

(25 reference statements)

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“…Balanced reciprocal translocations result from exchange of fragments between two chromosomes, without any gain or loss of genetic material, and are a common form of chromosomal abnormalities, occurring in about 1 in every 625 newborns [1–4]. Although, these translocation carriers usually do not exhibit any particular phenotypes, there is a balanced complement of genes.…”

Section: Introductionmentioning

confidence: 99%

“…These are responsible for a high incidence of infertility, pregnancy loss, mental retardation, behavioral abnormalities, morbidity and mortality. Carriers of reciprocal translocations have reduced fertility and thus form an increased risk of having a spontaneous abortion or an unbalanced karyotype in their offspring [1,3,5–11]. Pure trisomy due to non disjunction of chromosome 21 is responsible for 96.0% of Down Syndrome with a recurrence risk of less than 1.0%.…”

Section: Introductionmentioning

confidence: 99%

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Inheritance of a Chromosome 3 and 21 Translocation in the Fetuses, With One Also Having Trisomy 21, in Three Pregnancies in One Family

Pazarbaşı

Demırhan

Alptekin

et al. 2013

Balkan Journal of Medical Genetics

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The majority of chromosome rearrangements are balanced reciprocal and Robertsonian translocations. It is now known that such abnormalities cause no phenotypic effect on the carrier but lead to increased risk of producing unbalanced gametes. Here, we report the inheritance of a translocation between chromosomes 3 and 21 in a family with one of two fetuses with Down Syndrome carrying the same translocation and the other also carrying the same translocation without the additional chromosome 21. Chromosomal analysis from fetal amniotic fluid and peripheral blood lymphocytes from the family were performed at the Çukurova University Hospital at Adana, Turkey. We assessed a family in which the translocation between chromosomes 3 and 21 segregates: one of the three progenies carried the 47,XX,+21,t(3;21)(q21;q22) karyotype and presented with Down Syndrome; another of the three progenies carried the 46,XX,t(3;21) (q21;q22) karyotype and the third had the 46,XY karyotype. Their mother is phenotypically normal. Apparently this rearrangement occurred due to an unbalanced chromosome segregation of the mother [t(3;21)(q21;q22)mat]. This family will enable us to explain the behavior of segregation patterns and the mechanism for each type of translocation from carrier to carrier and their effects on reproduction and numerical aberrations. These findings can be used in clinical genetics and may be used as an effective tool for reproductive guidance and genetic counseling.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Inheritance of a Chromosome 3 and 21 Translocation in the Fetuses, With One Also Having Trisomy 21, in Three Pregnancies in One Family

Pazarbaşı

Demırhan

Alptekin

et al. 2013

Balkan Journal of Medical Genetics

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“…Three hypotheses have been proposed to explain such phenotype abnormalities, including a break in a gene, positional effect, and cryptic deletion or duplication (Callier et al, 2007). A gene (or genes) may have been disrupted by breaks and offspring were homozygous for a recessive gene mutation, masked by the parents who were heterozygous carriers (Beyazyurek et al, 2010). However, some studies have reported that the reproductive outcomes of balanced translocation carriers with recurrent pregnancy loss (RPL) were live births (Goddijn et al, 2004;Kochhar and Ghosh, 2013).…”

Section: Discussionmentioning

confidence: 99%

“…Scriven et al (2013) reported that PGD can reduce the risk of miscarriage to the level found in the general population, and that PGD benefits couples with high-risk translocations. Other studies have reported successful birth after PGD for couples carrying an identical balanced reciprocal translocation (Wiland et al, 2008;Mackie et al, 2010;Beyazyurek et al, 2010). However, there are also risks associated with assisted reproduction treatment.…”

Section: Discussionmentioning

confidence: 99%

“…Previous studies of carriers of balanced chromosomal translocations with recurrent spontaneous abortions (Beyazyurek et al, 2010;Simpson, 2012) showed that preimplantation genetic diagnosis (PGD) for translocations reduced loss rates from >90 to <15%. The in vitro fertilization method accompanied by PGD increases the chance of translocation carriers fathering a healthy child (Vozdova et al, 2011).…”

Section: Introductionmentioning

confidence: 99%

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Reproductive outcome of a case with familial balanced translocation t(3;6): implications for genetic counseling

et al. 2015

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ABSTRACT.Although it is known that parental carriers of structural chromosomal rearrangements are associated with recurrent pregnancy loss, subsequent natural pregnancies remain possible. We examined the reproductive outcome of a familial balanced translocation with t(3;6) (q12;q27). Karyotyping of the proband revealed 46,XY chromosomes with the balanced translocation t(3;6). The first 2 pregnancies resulted in spontaneous abortions. Based on the proband karyotype, his father and half-brother were subjected to cytogenetic analysis, and both showed 46,XY, t(3;6)(q12;q27). After genetic counseling, the proband chose to continue the pregnancy. During the third pregnancy, the subject gave birth to a normal male infant. For parental carriers with balanced chromosomal translocations, natural pregnancy should be considered during genetic counseling.

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Two different microarray technologies for preimplantation genetic diagnosis and screening, due to reciprocal translocation imbalances, demonstrate equivalent euploidy and clinical pregnancy rates

Tobler¹,

Brezina²,

Benner³

et al. 2014

J Assist Reprod Genet

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Preimplantation genetic diagnosis (PGD) for extremes—successful birth after PGD for a consanguineous couple carrying an identical balanced reciprocal translocation

Cited by 10 publications

References 23 publications

Inheritance of a Chromosome 3 and 21 Translocation in the Fetuses, With One Also Having Trisomy 21, in Three Pregnancies in One Family

Inheritance of a Chromosome 3 and 21 Translocation in the Fetuses, With One Also Having Trisomy 21, in Three Pregnancies in One Family

Reproductive outcome of a case with familial balanced translocation t(3;6): implications for genetic counseling

Two different microarray technologies for preimplantation genetic diagnosis and screening, due to reciprocal translocation imbalances, demonstrate equivalent euploidy and clinical pregnancy rates

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