Unusual segregation products in sperm from a pericentric inversion 17 heterozygote

Mikhaail-Philips, M.; McGillivray, Barbara; Hamilton, Sara; Ko, Evelyn; Chernos, Judy; Rademaker, Alfred; Martin, Renée H.

doi:10.1007/s00439-004-1245-0

Cited by 14 publications

(8 citation statements)

References 41 publications

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“…Data show divergent results regarding the occurrence and distribution of ICE among carriers. Whereas some authors have observed a significant increase of numerical abnormalities for many of the chromosomes analyzed [Rousseaux et al 1995a;Rousseaux et al 1995b;Van Hummelen et al 1997;Blanco et al 1998;Mercier et al 1998;Blanco et al 2000;Amiel et al 2001;Morel et al 2001;Oliver-Bonet et al 2001;Baccetti et al 2002;Oliver-Bonet et al 2002;Anton et al 2004a;Anton et al 2004b Machev et al 2005;Anton et al 2006;Chen et al 2007;Wiland et al 2007;Anton et al 2008;Vozdova et al 2008;Juchniuk de Vozzi et al 2009;Anton et al 2010;Pellestor et al 2011;Vozdova et al 2011b], others have not [Martini et al 1998;Cifuentes et al 1999;Honda et al 1999;Estop et al 2000;Rives et al 2003;Mikhaail-Philips et al 2004;Oliver-Bonet et al 2004;Mikhaail-Philips et al 2005;Hatakeyama et al 2006;Kekesi et al 2007;Vialard et al 2007].…”

Section: Interchromosomal Effectmentioning

confidence: 96%

Interchromosomal effect analyses by sperm FISH: incidence and distribution among reorganization carriers

Antón¹,

Vidal

Blanco

2011

Systems Biology in Reproductive Medicine

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Structural reorganization carriers usually present compromised fertility accompanied by an increased risk of producing gametes with chromosomal abnormalities that can be transmitted to the offspring. In part these imbalances are ascribed to result from the occurrence of meiotic disturbances produced by the rearrangements in the proper segregation of other chromosome pairs. This phenomenon of interference has been called interchromosomal effect (ICE). Several studies have been performed to assess the occurrence of ICE in structural reorganization carriers by analyzing the frequencies of numerical abnormalities in the gametes. Nevertheless, the occurrence and distribution of these disturbing events still is a controversial issue. In this work we present compiled data from 130 sperm fluorescent in situ hybridization (FISH) studies performed in carriers of the most frequent structural rearrangements in humans: 44 Robertsonian translocations, 66 reciprocal translocations and 13 inversions. Data from 7 complex/multiple rearrangements will be considered in a separate group. Significant increases of gametes with numerical abnormalities have been detected in all types of reorganization carriers. Among the groups of non-complex/multiple rearrangements, Robertsonian translocations appear to be the most prone to produce such interference (54.5%) closely followed by reciprocal translocations (43.9%). In contrast, ICE's were only detected in 7.7% of the inversion carriers analyzed. The presence of complex/multiple rearrangements seems to be an important factor for promoting ICE, as 71.4% of these carriers presented increased rates of gametes with numerical abnormalities. Altogether, almost half of the structural reorganization carriers (45.4%) present a higher reproductive risk of producing aneuploid/diploid spermatozoa compared to the general population. This high incidence has been obtained by analyzing a small set of chromosomes, suggesting that underlying meiotic disorders could be present in these individuals. Further ICE studies in structural reorganization carriers will help to clarify the still unknown predisposing cytogenetic features that promote this phenomenon.

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Section: Interchromosomal Effectmentioning

confidence: 96%

Interchromosomal effect analyses by sperm FISH: incidence and distribution among reorganization carriers

Antón¹,

Vidal

Blanco

2011

Systems Biology in Reproductive Medicine

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“…Investigations into the production of unbalanced gametes in balanced inversion carriers have been made to a much lesser extent than translocations; nevertheless, a handful of studies have reported ranges of unbalanced sperm of 1%-54%. [55][56][57][58][59] INTERCHROMOSOMAL EFFECT (ICE) Interestingly, the presence of a structural chromosomal aberration has in many cases exhibited an increased frequency of chromosomal abnormalities that involve chromosomes other than those involved in the rearrangement (reviewed by Ref. 60).…”

Section: Chromosomal Inversionsmentioning

confidence: 99%

Chromosomal disorders and male infertility

Harton¹,

Tempest²

2011

Asian J Androl

147

131

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Infertility in humans is surprisingly common occurring in approximately 15% of the population wishing to start a family. Despite this, the molecular and genetic factors underlying the cause of infertility remain largely undiscovered. Nevertheless, more and more genetic factors associated with infertility are being identified. This review will focus on our current understanding of the chromosomal basis of male infertility specifically: chromosomal aneuploidy, structural and numerical karyotype abnormalities and Y chromosomal microdeletions. Chromosomal aneuploidy is the leading cause of pregnancy loss and developmental disabilities in humans. Aneuploidy is predominantly maternal in origin, but concerns have been raised regarding the safety of intracytoplasmic sperm injection as infertile men have significantly higher levels of sperm aneuploidy compared to their fertile counterparts. Males with numerical or structural karyotype abnormalities are also at an increased risk of producing aneuploid sperm. Our current understanding of how sperm aneuploidy translates to embryo aneuploidy will be reviewed, as well as the application of preimplantation genetic diagnosis (PGD) in such cases. Clinical recommendations where possible will be made, as well as discussion of the use of emerging array technology in PGD and its potential applications in male infertility.

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“…Of note, an identical type of duplication was described in a child presenting a de novo inv dup(17p), localized to the terminal region of the long arm of the same chromosome, with a breakpoint on 17q distal to the 17q subtelomeric probe [Paskulin et al, ]. Meiotic recombination of a parental pericentric inversion, with a 17q breakpoint between the q arm telomere‐associated repeats and the q subtelomere region, had been suggested to be involved in the etiology of this chromosomal rearrangement, a mechanism that was previously reported [Lurie et al, ; Mikhaail‐Philips et al, ]. The recurrent nature of all these similar recombinants, including our dup(1q), suggests an identical mechanism of formation, resulting in pure duplications.…”

Section: Discussionmentioning

confidence: 89%

Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements

Lévy

Receveur

Jedraszak

et al. 2014

American J of Med Genetics Pt A

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Mosaicism for an autosomal structural rearrangement that does not involve ring or marker chromosomes is rare. The mechanisms responsible for genome instability have not always been explained. Several studies have shown that interstitial telomeric sequences (ITSs), involved in some mosaic constitutional anomalies, are potent sources of genomic instability. Here we describe two cases of mosaicism for uncommon constitutional autosomal rearrangements, involving ITSs, identified by karyotyping and characterized by FISH and SNP-array analysis. The first patient, a boy with global developmental delay, had a rare type of pure distal 1q inverted duplication (1q32-qter), attached to the end of the short arm of the same chromosome 1, in approximately 35% of his cells. The second patient, a phenotypically normal man, was diagnosed as having mosaic for a balanced non-reciprocal translocation of the distal segment of 7q (7q33qter), onto the terminal region of the short arm of a whole chromosome 12, in approximately 80% of his cells. The remaining 20% of the cells showed an unbalanced state of the translocation, with only the der(7) chromosome. He was ascertained through his malformed fetus carrying a non-mosaic partial monosomy 7q, identified at prenatal diagnosis. We show that pan-telomeric and subtelomeric sequences were observed at the interstitial junction point of the inv dup(1q) and of the der(12)t(7;12), respectively. The present cases and review of the literature suggest that the presence of ITSs at internal sites of the chromosomes may explain mechanisms of the patients's mosaic structural rearrangements.

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Unusual segregation products in sperm from a pericentric inversion 17 heterozygote

Cited by 14 publications

References 41 publications

Interchromosomal effect analyses by sperm FISH: incidence and distribution among reorganization carriers

Interchromosomal effect analyses by sperm FISH: incidence and distribution among reorganization carriers

Chromosomal disorders and male infertility

Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements

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