Cytogenetic Studies of Recurrent Miscarriage- A Review

Pokale, Yamini; Khadke, Prashant

doi:10.9734/isrr/2016/23441

Cited by 5 publications

(8 citation statements)

References 30 publications

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“…The 1qh+ variant occurs with increased frequency in infertile women and men with azoospermia and is associated with multiple abortions [9]. Regarding the 16qh+ variant, our and literature data confirm no difference in the frequency in patients with RF and normal population, which suggests that this polymorphism has virtually no effect on human reproduction [10].…”

Section: Discussionsupporting

confidence: 62%

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Chromosomal Polymorphism in Bulgarian Patients With Reproductive Problems – One Genetic Centre Experience

Angelova¹,

Tsvetkova²,

Levkova³

2021

JofIMAB

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Chromosomal polymorphism is described as normal variants at chromosomal regions with no impact on the phenotype but a possible correlation to infertility and recurrent spontaneous abortions. The aim of this study was to evaluate the effect of the chromosomal polymorphisms involved in families with reproductive failures in the Bulgarian population. Material and methods: A total of 1733 patients with unexplained reproductive failures who visited the Laboratory of Medical Genetics – Varna, Bulgaria, (2004 - 2019) were investigated by conventional cytogenetic analysis GTG and CBG differential banding techniques and analyzed at the resolution 400-550 GTG bands. Results: Chromosomal polymorphisms were found in 173 infertile patients (9,98%). The sex distribution was 6,52% males and 3,46% females. The most frequent finding was inv(9)(qh) (23,7%). The other chromosomal variants, which were found, consisted: 9qh+/- variants (15,1%); polymorphisms on the short arms of the acrocentric chromosomes (21,4%); 16qh+ (12,7%) and 1qh+ (6,9%). Y chromosome polymorphism was found in 27,4% of the males with polymorphisms. Two rare cases of polymorphism involving the centromere regions - 19qcenh+ and 20pcenh+ were also found. Conclusion: There is growing evidence that polymorphisms may have a clinical impact on fertility and could take part in the etiology of RF. In this study, we found a significantly high percentage of polymorphisms (9,98%) among the tested patients, and they were more common among males. The statistical significance of increased incidence of chromosome variations found in our study emphasizes the need for routine evaluation of their role in families with RF in our country.

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Section: Discussionsupporting

confidence: 62%

“…of the 9qh+ variant in patients, assuming that large heterochromatin blocks can cause chromosomal abnormalities and meiotic retention, leading to abortion [9,10].…”

Section: Discussionmentioning

confidence: 99%

Chromosomal Polymorphism in Bulgarian Patients With Reproductive Problems – One Genetic Centre Experience

Angelova¹,

Tsvetkova²,

Levkova³

2021

JofIMAB

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“…Esto podría conllevar al surgimiento de anomalías cromosómicas en los gametos e incluso la retención del proceso de la meiosis. (17,18) En el cariograma del propósito que analizamos, se observó una banda que sugiere ser eucromátina extra insertada en la heterocromatina de la región 9q. Este hallazgo ha sido reportado por diferentes autores y caracterizado, mediante la técnica FISH, como una secuencia derivada a partir de la banda 9p12.…”

Section: Discussionunclassified

Inusual ganancia en 9qh y su posible influencia en los trastornos reproductivos. A propósito de un caso

Álvarez

Martínez

Rodríguez

et al. 2023

Salud, Ciencia y Tecnología - Serie de Conferencias

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Los trastornos reproductivos son de causa heterogénea. Las aberraciones cromosómicas balanceadas y los polimorfismos cromosómicos en individuos portadores están descritas entre las causas genéticas más reportadas. El objetivo de este trabajo fue describir el hallazgo inusual de una ganancia en la región heterocromática del cromosoma 9, unida a dos bandas de aparente eucromatina en esta región en un hombre con el antecedente de varios años de infertilidad. Se trata de un paciente masculino, de 36 años, que durante 10 años no ha podido procrear; presentando una oligoastenospermia sin otras alteraciones en su estudio clínico. A través del estudio cromosómico convencional en sangre periférica, fue obtenido un cariotipo con 46,XY, 9qh++. La región heterocromática aumentada hallada en uno de sus cromosomas 9 se interpreta como una aparente duplicación, con dos bandas de aparente eucromatina insertadas en ella. La inusual variación observada en el cromosoma 9 de este paciente, sugiere ser la causa del trastorno reproductivo que presenta.

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“…The risk of having a live birth with an unbalanced chromosome translocation is generally about 1-15% if one of the parents is a carrier for a balanced chromosome translocation [5]. The exact risk depends on the specific chromosome and the chromosome segment size involved in the rearrangement, the genes enclosed in the segment, family history, sex of the transmitting parent and mode of ascertainment.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of a Fetus with Trisomy 18 and Inherited Reciprocal Translocation Between Chromosomes 7 and 18

Jadhav¹,

James²,

Jadhav³

et al. 2021

Journal of Fetal Medicine

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It is widely known that the increased prevalence of chromosomal abnormalities is mainly due to Robertsonian and reciprocal translocations as compared to duplication, deletion and inversion. In case of balanced translocations, there are no phenotypic characteristics observed in the carrier, but it leads to increased risk of producing unbalanced gametes. In this case report we present a prenatal case diagnosed at 16 weeks of gestation with trisomy for chromosome 18 along with inherited balanced reciprocal translocation between chromosome 7 and 18. Chromosome analysis of fetal amniotic fluid and maternal peripheral blood was performed at the Clinical Genetics Department. Fetal chromosome analysis confirmed a rare genetic abnormality 47,t(7;18)(p13;q21)mat, ? 18. Maternal karyotype confirmed a balanced reciprocal translocation 46,XX,t(7;18)(p13;q21). The pregnancy was terminated at 16-17 weeks due to abnormal karyotype results. The present findings can be used as an effective tool for reproductive guidance and genetic counseling of the couple.

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Cytogenetic Studies of Recurrent Miscarriage- A Review

Cited by 5 publications

References 30 publications

Chromosomal Polymorphism in Bulgarian Patients With Reproductive Problems – One Genetic Centre Experience

Chromosomal Polymorphism in Bulgarian Patients With Reproductive Problems – One Genetic Centre Experience

Inusual ganancia en 9qh y su posible influencia en los trastornos reproductivos. A propósito de un caso

Prenatal Diagnosis of a Fetus with Trisomy 18 and Inherited Reciprocal Translocation Between Chromosomes 7 and 18

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