Delineating the association between isodicentric chromosome Y and infertility: a retrospective study

Kalantari, Hossein; Asia, Saba; Totonchi, Mehdi; Vazirinasab, Hamed; Mansouri, Zahra; Moradi, Saeed; Haratian, Kaveh; Gourabi, Hamid; Meybodi, Anahita Mohseni

doi:10.1016/j.fertnstert.2013.12.048

Cited by 22 publications

(29 citation statements)

References 24 publications

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“…İsodicentric Y chromosome is assosiated with nonobstructive male infertility. This variation depends on mosaic cell line of 45,X and also the percentage of SRY-positive cells in the gonads [7]. As a result, in the mosaic patient, dominant cell line seem to be influencing the sex phenotype irrespective of the proportion of the Y-cell line [8][9][10].…”

Section: Discussionmentioning

confidence: 99%

A mosaic infertile case of isodicentricY-chromosome with duplicated SRY, SHOX and deleted AZF locus

Özdemir¹,

Paksoy²,

Karakaya³

et al. 2017

Biomed Genet Genomics

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Objective: Structural Y chromosome abnormalities such as; DAZ, AZF and sY152 deletion play a key role in the genetic etiology of male infertility. Here we used comparable techniques to determine the characteristics of Y chromosome microdeletions and/or duplications in an infertile man in the current report. Methods:In the diagnosis of the current case, we used and compared different well optimised techniques such as; standard cytogenetic C and GTG banded karyotypes, flourescence in-situ hybridization (FISH), QF-PCR, a multiplex fragman PCR analysis for standarized of eigth sequence-tagged site (STS) and microarray comparative genomic hybridization (aCGH) methods for detection of Y chromosome duplications and microdeletions.Results: In the current thirty-year-old infertile male report, we present a detailed molecular-cytogenetic characterization of an individual with mosaicism involving an isodicentric Y chromosome and some phenotypic features. He was in tall stature, microtestis, delayed speech and increased gonadotropins (levels) [(FSH(20 miU/ ml,5), LH(15.3 miU/ml, N:1.8-9) and prolactin (15 ng/ml, N:4-16)] and azoospermia clinically. He was identified mos46,X,idic(Y)(pter->q12::q12->pter) (92)/45,X(8) karyotype after comparable refine genetic methods. SRY, SHOX and amelogenin genes were duplicated and AZF, C band positive region of q arm were deleted in the current azoospermic male. Conclusion:The comparable multiplex QF-PCR, karyotyping and microArray-CGH techniques are capable to detect all structural Y chromosome anomalies in diagnosis and prior to artificial reproduction techniques (ART) in male infertility.

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Section: Discussionmentioning

confidence: 99%

A mosaic infertile case of isodicentricY-chromosome with duplicated SRY, SHOX and deleted AZF locus

Özdemir¹,

Paksoy²,

Karakaya³

et al. 2017

Biomed Genet Genomics

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“…Furthermore, the breakpoints in these patients were found to locate in the 11.2 region of Yq which contains a azoospermic factor (AZF) region. It has been confirmed that most of the patients have AZF microdeletion …”

Section: Introductionmentioning

confidence: 87%

“…Besides, these rare aberrance is present mostly in phenotype male . However, the most common cytogenetic aberrations of Y chromosome are isodicentric chromosomes in male and female cases . Phenotypes depend on the location of the breakpoints and on the proportion of aberrant cell lines which vary among male, abnormal female, and individual with ambiguous genitalia .…”

Section: Introductionmentioning

confidence: 99%

“…11 However, the most common cytogenetic aberrations of Y chromosome are isodicentric chromosomes in male and female cases. [12][13][14] Phenotypes depend on the location of the breakpoints and on the proportion of aberrant cell lines which vary among male, abnormal female, and individual with ambiguous genitalia. 13 Due to mitotic instability of idics, patients with idics always develop a mosaic with 45,X cell line, and with a wide spectrum of manifestations regardless of females with Turner symptoms and males with spermatogenic failure.…”

Section: Introductionmentioning

confidence: 99%

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A de novo derivative Y chromosome (partial Yq deletion and partial duplication of Yp and Yq) in a female with disorders of sex development

Liu

et al. 2018

Clinical Case Reports

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“…Probably, the most common cytogenetic aberrations of the Y chromosome are isodicentric chromosomes (Cui et al, 2014; DesGroseilliers et al, 2006; Kalantari et al, 2014). There have been numerous cases described of isodicentric chromosomes Y carriers, in whom deletions triggered a suppression of the kinetochore activity in one of the centromeric regions (Haaf and Schmid, 1990; Kuan et al, 2013).…”

Section: Introductionmentioning

confidence: 99%

FISH and array CGH characterization of de novo derivative Y chromosome (Yq duplication and partial Yp deletion) in an azoospermic male

Wiland

Yatsenko

Kishore

et al. 2015

Reproductive BioMedicine Online

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This study presents a 28-year-old infertile male who was referred to the cytogenetic laboratory for chromosomal analysis after 4 years of regular unprotected intercourse in whom non-obstructive azoospermia was revealed. Standard cytogenetic G-banding was performed on metaphase spreads and a de-novo karyotype 46,X,der(Y)(q11.22;p11.3) was identified. This analysis was followed by flourescence in-situ hybridization(FISH) and array comparative genomic hybridization (aCGH). Finally, the patient’s karyotype was identified as 46,X,der(Y)(qter→q11.221∷p11.31→qter).ish der(Y)(qter+,pter−,SHOX+,SRY+,Ycen+,DYZ3+;DYZ1+,qter+).arrYq11.221q12 (14,448,863–59,288,511) x2, Yp11.32p11.31(104,062–266,388) x0. It is proposed that de-novo derivative monocentric Y chromosome with duplicated region Y qter→q11.221∷p11.31→qter with partial deletion of Yp PAR1 region most probably can perturb the conjugation of sex chromosomes during first meiotic division of spermatogenic arrested differentiation (development).

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Delineating the association between isodicentric chromosome Y and infertility: a retrospective study

Cited by 22 publications

References 24 publications

A mosaic infertile case of isodicentricY-chromosome with duplicated SRY, SHOX and deleted AZF locus

A mosaic infertile case of isodicentricY-chromosome with duplicated SRY, SHOX and deleted AZF locus

A de novo derivative Y chromosome (partial Yq deletion and partial duplication of Yp and Yq) in a female with disorders of sex development

FISH and array CGH characterization of de novo derivative Y chromosome (Yq duplication and partial Yp deletion) in an azoospermic male

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