Clinical manifestations of chromosomal anomalies and polymorphic variations in patients suffering from reproductive failure

Rawal, Leena; Kumar, Sumit; Mishra, Shiba Ranjan; Lal, Vandana; Bhattacharya, Sumitra

doi:10.4103/jhrs.jhrs_46_19

Cited by 12 publications

(8 citation statements)

References 29 publications

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“…Structural chromosomal alterations, such as reciprocal translocations, Robertsonian translocations, and chromosome 9 inversions, play a significant role in MI, similar to polymorphic structural alterations that affect fertility [ 10 – 14 ].…”

Section: Resultsmentioning

confidence: 99%

Cytogenetics investigation in 151 Brazilian infertile male patients and genomic analysis in selected cases: experience of 14 years in a public genetic service

Adriano,

Bortolai,

Madia

et al. 2024

BMC Res Notes

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Objectives Male infertility accounts for approximately 30% of cases of reproductive failure. The characterization of genetic variants using cytogenomic techniques is essential for the adequate clinical management of these patients. We aimed to conduct a cytogenetic investigation of numerical and structural rearrangements and a genomic study of Y chromosome microdeletions/microduplications in infertile men derived from a single centre with over 14 years of experience. Results We evaluated 151 infertile men in a transversal study using peripheral blood karyotypes and 15 patients with normal karyotypes through genomic investigation by multiplex ligation-dependent probe amplification (MLPA) or polymerase chain reaction of sequence-tagged sites (PCR-STS) techniques. Out of the 151 patients evaluated by karyotype, 13 presented chromosomal abnormalities: two had numerical alterations, and 11 had structural chromosomal rearrangements. PCR-STS detected a BPY2 gene region and RBMY2DP pseudogene region microdeletion in one patient. MLPA analysis allowed the identification of one patient with CDY2B_1 and CDY2B_2 probe duplications (CDY2B and NLGN4Y genes) and one patient with BPY2_1, BPY2_2, and BPY2_4 probe duplications (PRY and RBMY1J genes).

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Section: Resultsmentioning

confidence: 99%

Cytogenetics investigation in 151 Brazilian infertile male patients and genomic analysis in selected cases: experience of 14 years in a public genetic service

Adriano,

Bortolai,

Madia

et al. 2024

BMC Res Notes

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“…As previously discussed for VNTRs, it is a matter of location and circumstances (as for SINEs, the presence or absence of specific viruses) whether these conditions lead to clinical problems for its carrier [ 38 ]. Adverse effects of SSREs are the following: To date, ~100 examples are known of diseases that are caused by LINE insertions and/or amplification, such as epithelial cell cancer or neurological disorders [ 45 , 46 , 47 ]. Additionally, the hypomethylation of LINES has been linked to chromosomal instability and altered gene expression in cancer and normal tissue types [ 48 , 49 ].…”

Section: Repetitive Elements In Humansmentioning

confidence: 99%

“…Furthermore, mitochondrial diseases can be inherited via NUMTs not only via the maternal but also the paternal line: this has been shown in seven families [ 51 ]. The possible influence of satellite DNA copy numbers on human fertility have been previously reported [ 44 , 45 ], while the influence of RNA derived from HORs is still not really understood [ 46 , 52 ]. …”

Section: Repetitive Elements In Humansmentioning

confidence: 99%

“…To date, ~100 examples are known of diseases that are caused by LINE insertions and/or amplification, such as epithelial cell cancer or neurological disorders [ 45 , 46 , 47 ]. Additionally, the hypomethylation of LINES has been linked to chromosomal instability and altered gene expression in cancer and normal tissue types [ 48 , 49 ].…”

Section: Repetitive Elements In Humansmentioning

confidence: 99%

“…The possible influence of satellite DNA copy numbers on human fertility have been previously reported [ 44 , 45 ], while the influence of RNA derived from HORs is still not really understood [ 46 , 52 ].…”

Section: Repetitive Elements In Humansmentioning

confidence: 99%

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Repetitive Elements in Humans

Liehr

2021

IJMS

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Repetitive DNA in humans is still widely considered to be meaningless, and variations within this part of the genome are generally considered to be harmless to the carrier. In contrast, for euchromatic variation, one becomes more careful in classifying inter-individual differences as meaningless and rather tends to see them as possible influencers of the so-called ‘genetic background’, being able to at least potentially influence disease susceptibilities. Here, the known ‘bad boys’ among repetitive DNAs are reviewed. Variable numbers of tandem repeats (VNTRs = micro- and minisatellites), small-scale repetitive elements (SSREs) and even chromosomal heteromorphisms (CHs) may therefore have direct or indirect influences on human diseases and susceptibilities. Summarizing this specific aspect here for the first time should contribute to stimulating more research on human repetitive DNA. It should also become clear that these kinds of studies must be done at all available levels of resolution, i.e., from the base pair to chromosomal level and, importantly, the epigenetic level, as well.

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Challenges in classifying human chromosomal heteromorphisms using banding cytogenetics: From controversial guidelines to the need for a universal scoring system

Pires,

Jorge,

Liehr

et al. 2024

Hum Genome Var

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Chromosomal heteromorphisms (CHs) are morphological variations predominantly found in constitutive heterochromatic regions of the genome, primarily composed of tandemly repetitive sequences of satellite DNA. Although not completely devoid of genes, these regions are typically not transcribed into proteins and lack obvious phenotypic impact. Nonetheless, their clinical importance is increasingly under scrutiny, with several studies aiming to assess their influence on human diseases and susceptibilities, especially as they are seemingly part of the long noncoding RNAs in certain tissues. This article summarizes the classification methods of human heterochromatic CHs documented in the literature over the last two decades. Multiple scoring systems have been identified, and previous approaches for CH assessment and reporting in genetic diagnosis have shown inconsistencies. Owing to the current heterogeneity in the classification of CHs, data analysis may be biased, impacting the quality of clinical reports and human genetic research. This review highlights the need for a universal scoring system, which is essential for scientific reproducibility and the accurate identification and clinical evaluation of human CHs.

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Clinical manifestations of chromosomal anomalies and polymorphic variations in patients suffering from reproductive failure

Cited by 12 publications

References 29 publications

Cytogenetics investigation in 151 Brazilian infertile male patients and genomic analysis in selected cases: experience of 14 years in a public genetic service

Cytogenetics investigation in 151 Brazilian infertile male patients and genomic analysis in selected cases: experience of 14 years in a public genetic service

Repetitive Elements in Humans

Challenges in classifying human chromosomal heteromorphisms using banding cytogenetics: From controversial guidelines to the need for a universal scoring system

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