inv(9)(p24q13) in three sterile brothers

Dávalos, Ingrid P.; Rivas, Fernando; Ramos, Alma L.; Galaviz, Carlos; Sandoval, Lucila; Rivera, Horacio

doi:10.1016/s0003-3995(00)00013-7

Cited by 20 publications

(13 citation statements)

References 12 publications

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“…However, the association of chromosome 9 inversion with subfertility has been documented and it has been hypothesized that during an inversion event, there might be loss or suppression of the euchromatin chromosome region due to the position variegation effect, leading to abnormalities in children. [2829] In the study of subfertility by García-Peiró et al .,[30] it was discovered that there were significantly high meiotic alterations and aneuploidy rates, high-sperm deoxyribonucleic acid fragmentation and altered seminogram parameters among males with inversion Y chromosome.…”

Section: Discussionmentioning

confidence: 99%

Chromosomal abnormalities in couples with repeated fetal loss: An Indian retrospective study

Sheth¹,

Liehr²,

Pritti³

et al. 2013

Indian J Hum Genet

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BACKGROUND:Recurrent pregnancy loss is a common occurrence and a matter of concern for couples planning the pregnancy. Chromosomal abnormalities, mainly balanced rearrangements, are common in couples with repeated miscarriages.PURPOSE:The purpose of this study is to evaluate the contribution of chromosomal anomalies causing repeated spontaneous miscarriages and provide detailed characterization of a few structurally altered chromosomes.MATERIALS AND METHODS:A retrospective cytogenetic study was carried out on 4859 individuals having a history of recurrent miscarriages. The cases were analyzed using G-banding and fluorescence in situ hybridization wherever necessary.RESULTS:Chromosomal rearrangements were found in 170 individuals (3.5%). Translocations were seen in 72 (42.35%) cases. Of these, reciprocal translocations constituted 42 (24.70%) cases while Robertsonian translocations were detected in 30 (17.64%) cases. 7 (4.11%) cases were mosaic, 8 (4.70%) had small supernumerary marker chromosomes and 1 (0.6%) had an interstitial microdeletion. Nearly, 78 (1.61%) cases with heteromorphic variants were seen of which inversion of Y chromosome (57.70%) and chromosome 9 pericentromeric variants (32.05%) were predominantly involved.CONCLUSIONS:Chromosomal analysis is an important etiological investigation in couples with repeated miscarriages. Characterization of variants/marker chromosome enable calculation of a more precise recurrent risk in a subsequent pregnancy thereby facilitating genetic counseling and deciding further reproductive options.

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Section: Discussionmentioning

confidence: 99%

Chromosomal abnormalities in couples with repeated fetal loss: An Indian retrospective study

Sheth¹,

Liehr²,

Pritti³

et al. 2013

Indian J Hum Genet

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“…Despite being categorized as a minor chromosomal rearrangement that does not correlate with abnormal phenotypes, many reports in the literature raised conflicting views regarding the association with sterility and subfertility [27,28]. …”

Section: Discussionmentioning

confidence: 99%

Chromosomal Polymorphisms Involved in Reproductive Failure in the Romanian Population

Mierla¹,

Stoian²

2012

Balkan Journal of Medical Genetics

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Cytogenetic heteromorphisms are described as variations at specific chromosomal regions with no impact on phenotype. The purpose of this study was to investigate the effects of these chromosomal polymorphisms involved in reproductive failure in the Romanian population.One thousand eight hundred and nine infertile patients, who were referred to Life Memorial Hospital, Bucharest, Romania, between January 2008 and April 2011, were investigated in this retrospective study. The frequency of chromosomal polymorphic variations was calculated for these patients. The control group is represented by 1116 fetuses investigated by amniocentesis between January 2009 and April 2011.In this study 122 (6.74%) infertile patients and 63 fetuses (5.65%) showed chromosomal polymorphic variations. The differences between the two groups was not statistically significant (p <0.242) but there was statistical significance for some specific chromosomal polymorphisms [inv(9),1qh+, 9qh+, fra(17)].Some chromosomal polymorphic variations appear to be associated with reproductive failure. The statistically significantly higher incidence of heterochromatic variations found in infertile individuals emphasizes the need to assess their role in infertility and subfertility.

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“…This variable affect has been reported also for other translocations as documented by the following examples. Among the 25 translocations and inversions reported in 1,562 infertile males, Peschka et al [1999] could demonstrate a paternal origin of the rearrangement in seven males all with sperm anomalies; Davalos et al [2000] described a chromosome 9 inversion, inv(9)(p24q13), inherited from the father in three azoospermic brothers; Teyssier et al [1993] found a t(Y;1) translocation in an infertile man with severe oligoasthenospermia and in his father who had four children. Thus, it seems likely that chromosome rearrangements either translocations, inversions or supernumerary marker chromosomes, may induce male infertility in specific genetic backgrounds but not in others.…”

Section: Propositus' Phenotypementioning

confidence: 99%

Reciprocal translocation associated with multiple exostoses in seven members of a three generation family and discovered through an infertile male

Pramparo

Gregato

Gregori

et al. 2003

American J of Med Genetics Pt A

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We report a four generations family with multiple exostoses segregating with a reciprocal translocation t(8;19)(q24.11;q13.13) in 8 members of three generations. FISH investigations detected a breakage of the dosage-sensitive EXT1 gene. Although three members of the family died perinatally from unknown causes and one carrier had four spontaneous abortions, the translocation was discovered only when the cytogenetic analysis was requested in an affected male because of oligozoospermia. In fact, it is well known that infertile males may be carriers of reciprocal or Robertsonian translocations with a higher frequency than the general population. This family stresses the importance of requesting the cytogenetic analysis in all cases in which a dominant disease segregates with repeated miscarriages and/or newborn deaths of unknown cause.

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inv(9)(p24q13) in three sterile brothers

Cited by 20 publications

References 12 publications

Chromosomal abnormalities in couples with repeated fetal loss: An Indian retrospective study

Chromosomal abnormalities in couples with repeated fetal loss: An Indian retrospective study

Chromosomal Polymorphisms Involved in Reproductive Failure in the Romanian Population

Reciprocal translocation associated with multiple exostoses in seven members of a three generation family and discovered through an infertile male

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