Intracytoplasmic Sperm Injection Pregnancy with Trisomy 20p and Monosomy 22q in a Newborn Resulting from a Balanced Paternal Translocation

Belin, V.; Farhat, M. Ben; Monset-Couchard, M

doi:10.1159/000014121

Cited by 8 publications

(6 citation statements)

References 27 publications

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“…Thirty-nine cases have been reported, all but two cases [Zumel et al, 1989;Molina-Gomes et al, 2006] diagnosed postnatally. Most partial trisomies result from reciprocal translocation [Taylor et al, 1976;Marcus et al, 1979;Funderburk et al, 1983;Lurie et al, 1985;Vamos et al, 1985;Zumel et al, 1989;Grammatico et al, 1992;LeChien et al, 1994;Belin et al, 1999;Oppenheimer et al, 2000;Wieczorek et al, 2003;Thomas et al, 2004;T€ umer et al, 2005;Brenk et al, 2007]. In a few cases, trisomy 20p results from parental inversion [Lucas et al, 1985;Bown et al, 1986;Molina-Gomes et al, 2006;Chaabouni et al, 2007] or the formation of isochromosomes [Sidwell et al, 2000].…”

Section: Genotype-phenotype Correlationmentioning

confidence: 99%

Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U‐type exchange model

Leclercq

Maincent

Baverel

et al. 2009

American J of Med Genetics Pt A

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Inverted duplications with terminal deletions have been reported for an increasing number of chromosome ends. The best characterized and most frequent rearrangement reported involves the short arm of chromosome 8. It derives from non-allelic homologous recombination (NAHR) between two inverted LCRs (low copy repeats) of the olfactory receptor (OR) gene cluster during maternal meiosis. We report here on the cytogenetic characterization of the first inversion duplication deletion involving the short arm of chromosome 20 (inv dup del 20p) in an 18-month-old boy presenting with clinical signs consistent with 20p trisomy syndrome. This abnormality was suspected on karyotyping, but high-resolution molecular cytogenetic investigations were required to define the breakpoints of the rearrangement and to obtain insight into the mechanism underlying its formation. The duplicated region was estimated to be 18.16 Mb in size, extending from 20p13 to 20p11.22, and the size of the terminal deletion was estimated at 2.02 Mb in the 20p13 region. No single copy region was detected between the deleted and duplicated segments. As neither LCR nor inversion was identified in the 20p13 region, the inv dup del (20p) chromosome abnormality probably did not arise by NAHR. The most likely mechanism involves a break in the 20p13 region, leading to chromosome instability and reparation by U-type exchange or end-to-end fusion.

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Section: Genotype-phenotype Correlationmentioning

confidence: 99%

Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U‐type exchange model

Leclercq

Maincent

Baverel

et al. 2009

American J of Med Genetics Pt A

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“…The pregnancy of Meschede's case 9 (a female with t(10;14)) was reported to be uneventful. Belin et al (1999) reported a triplet pregnancy with a chromosomally normal girl, one physically normal boy with a balanced translocation and a severely malformed boy with partial trisomy 20p and monosomy 22q who died in the neonatal period. The father carried a previously unreported balanced translocation (20;22).…”

Section: Autosomal Reciprocal Translocationsmentioning

confidence: 99%

Somatic chromosomal abnormalities in infertile men and women

Mau-Holzmann¹

2005

Cytogenet Genome Res

130

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Infertility – the inability to achieve conception or sustain a pregnancy through to live birth – is very common and affects about 15% of couples. While chromosomal or genetic abnormalities associated with azoospermia, severe oligozoospermia or primary ovarian failure were of no importance for reproduction prior to the era of in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI), advances in assisted reproductive techniques (ART) now enable many infertile couples to have children. These developments have raised the question of the genetic consequences of ICSI: concerns of the potential harm of the invasive procedure and concerns about the genetic risk. The infertile male and female definitely have an increased risk to carry a chromosomal abnormality. Detection of such an abnormality is of fundamental importance for the diagnosis of infertility, the following treatment, the evaluation of the risk for the future child and the appropriate management of the pregnancy to be obtained. Therefore, cytogenetic screening of both partners is mandatory prior to any type of ART. The present review is based on several surveys on male and female infertility and analyzes the types and frequencies of the different reported chromosome abnormalities according to the type of impairment of spermatogenesis and the type of treatment planned or performed. With regard to assisted reproductive techniques (especially ICSI) the main types of chromosomal abnormalities are discussed and their potential risks for ICSI. If available, reported cases of performed ICSI and its outcome are presented. The detection of an abnormal karyotype should lead to comprehensive genetic counselling, which should include all well-known information about the individual type of anomaly, its clinical relevance, its possible inheritance, the genetic risk of unbalanced offspring, and the possibilities of prenatal diagnosis. Only this proceeding allows at-risk couples to make an informed decision regarding whether or not to proceed with ART. These decisions can be made only when both partners have clearly understood the genetic risks and possible consequences when ART is used.

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“…Translocations associated with infertility may involve virtually any chromosome, though the sex chromosomes are most frequently perturbed Meschede et al, 1998;Van der Ven et al, 1998;Causio et al, 1999;Belin et al, 1999;Giltay et al, 1999a, b;Peschka et al, 1999). Associated phenotypes range widely depending on the chromosomes involved.…”

Section: Structural Rearrangements (Translocations Deletions and Rings)mentioning

confidence: 99%

“…Translocations may be balanced with the genome remaining largely intact or unbalanced with chromosome loss. Because unbalanced translocations usually have a devastating effect on phenotype, patients carrying balanced rearrangements most commonly seek assisted reproduction (Mikkelsen, 1999;Belin et al, 1999;Giltay et al, 1999b). Some individuals may have compromised gonad function, but others may have normal fertility associated with a history of recurrent abortion or the birth of a child with an unbalanced chromosomal rearrangement.…”

Section: Structural Rearrangements (Translocations Deletions and Rings)mentioning

confidence: 99%

The critical and expanding role of genetics in assisted reproduction

Kent‐First

2000

Prenat. Diagn.

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With the progress of the human gene mapping initiative, it is expected that the entire genome will be mapped within two years. A significant use for these data will centre on testing for genetic disease. Professionals associated with assisted reproduction are presented with a very special subset of the population, namely, couples suffering from infertility. Infertility may occur in the male, the female or both partners and may be heritable. Infertility, subfertility or recurrent spontaneous miscarriage is associated with chromosomal or genetic anomalies, suggesting that basic developmental genetics should be a part of the education of the physician or clinical embryologist. A review of the most common infertility‐associated chromosomal and genetic diseases for which genetic testing has become routine in infertile parents and in the products of assisted reproduction through preimplantation genetic diagnosis (PGD) and prenatal testing follows. Less common genetic diseases that have compromising effects on reproduction and which are likely to be encountered by providers of assisted reproduction are also considered. Copyright © 2000 John Wiley & Sons, Ltd.

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Intracytoplasmic Sperm Injection Pregnancy with Trisomy 20p and Monosomy 22q in a Newborn Resulting from a Balanced Paternal Translocation

Cited by 8 publications

References 27 publications

Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U‐type exchange model

Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U‐type exchange model

Somatic chromosomal abnormalities in infertile men and women

The critical and expanding role of genetics in assisted reproduction

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