A new case of (Y;1) balanced reciprocal translocation in an infertile man with Hodgkin's disease.

Moreau, Nicole; M, Teyssier; Rollet, J

doi:10.1136/jmg.24.6.379

Cited by 9 publications

(4 citation statements)

References 2 publications

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“…Reciprocal translocations between the Y and a non-acrocentric chromosome, such as the de novo balance translocation described in the present study are rarely observed (17)(18)(19)(20). A review of previous report concerning a Y-autosome carrier indicated that most of the translocations led to azoospermia or oligozoospermia (Table I), and the phenotype was associated with the localization of the breakpoint and the nature of the lost Yq material (21-23).…”

Section: Discussionsupporting

confidence: 48%

Cytogenic and molecular studies of male infertility in cases of Y chromosome balanced reciprocal translocation

Wang

Chen

Kong

et al. 2017

Molecular Medicine Reports

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Y-autosomal translocation has been previously reported in association with male infertility; however, the mechanisms of Y-autosomal translocation and non‑obstructive azoospermia or severe oligospermia remain unclear. G‑banding and fluorescence in situ hybridization (FISH) were performed to analyze the translocation of chromosomes, and a single nucleotide polymorphism (SNP) genotyping assay was used to test mutations. The present study describes three new cases with a de novo balanced translocation t(Y;13), t(Y;9) and t(Y;6). To further explore the genotype‑phenotype correlation, G‑banding and FISH were performed and indicated the presence of a derivative chromosome. The SNP genotyping assay using a microarray revealed no abnormality, especially in the Y chromosome. Molecular deletion analysis demonstrated that no microdeletion was detected in the azoospermia factor region of the Y chromosome in the examined, infertile men. Based on these observations, the authors proposed the hypothesis that a position effect involving unknown spermatogenesis regulatory gene(s) serves a key role in male infertility.

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Section: Discussionsupporting

confidence: 48%

Cytogenic and molecular studies of male infertility in cases of Y chromosome balanced reciprocal translocation

Wang

Chen

Kong

et al. 2017

Molecular Medicine Reports

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“…However, low-frequency mosaicism seems to be a frequent and underestimated cause of failure in assisted Balanced Y-autosome translocation is very rare. Most of these cases occur as a de-novo event (Moreau et al, 1987). We reproduction (Toncheva et al, 1994).…”

Section: Fertilization (Ivf) Is Unsuccessful With Fertilization Ratementioning

confidence: 99%

Chromosomal findings in 150 couples referred for genetic counselling prior to intracytoplasmic sperm injection

Mau¹,

Backert²,

Kaiser³

et al. 1997

Human Reproduction

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A total of 150 infertile couples underwent chromosome analysis and genetic counselling before intracytoplasmic sperm injection (ICSI). Chromosomal abnormalities, including low-level sex chromosome mosaicism, were detected in 12% of the men and an unexpectedly high 6% of the women. Chromosomal abnormalities included gonosomal mosaicism in 13 cases, Robertsonian translocations in four males, autosomal reciprocal translocations in five cases, reciprocal translocation involving a sex chromosome in one case, inversions in three cases and a marker chromosome in one male. Chromosomal variants found in 11 women and 13 men were not included in the above percentages. Couples with a chromosomal aberration in one partner received a second counselling. The different aspects of genetic counselling in these couples are discussed. In conclusion, we recommend genetic counselling and chromosomal analysis of men and women prior to ICSI therapy.

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“…12 In the familial case, the patient with severe oligoasthenozoospermia had inherited the translocation from his father who had had four children; thus, this abnormality does not necessarily cause infertility.…”

Section: Discussionmentioning

confidence: 99%

Transmission of an unbalanced (Y;1) translocation in Brittany, France

Morel

2002

Journal of Medical Genetics

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A new case of (Y;1) balanced reciprocal translocation in an infertile man with Hodgkin's disease.

Cited by 9 publications

References 2 publications

Cytogenic and molecular studies of male infertility in cases of Y chromosome balanced reciprocal translocation

Cytogenic and molecular studies of male infertility in cases of Y chromosome balanced reciprocal translocation

Chromosomal findings in 150 couples referred for genetic counselling prior to intracytoplasmic sperm injection

Transmission of an unbalanced (Y;1) translocation in Brittany, France

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