45,X Karyotype in an Infertile Man: How Is This Possible?

Amaro, Aline C.S.; Mafra, Fernanda; Pane, C.; Kulikowski, Leslie Domenici; Bianco, Bianca; Barbosa, Caio Parente; Christofolini, Denise Maria

doi:10.1159/000365010

Cited by 3 publications

(2 citation statements)

References 9 publications

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“…Human embryos will develop towards the male gender as long as the SRY gene is present in the genome, even without the Y chromosome. That may also be the primary molecular basis for 45,X males [ 28 , 29 ]. Based on molecular testing, the seemingly "pure" 45,X male may not exist.…”

Section: Discussionmentioning

confidence: 99%

Verification of a cryptic t(Y;15) translocation in a male with an apparent 45,X karyotype

Qin

Wang

et al. 2022

Mol Cytogenet

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Background A rare disease is that an individual with a non-chimeric karyotype of 45,X develops into a male. We explored the genetic aetiology of an infertile male with an apparent 45,X karyotype, which was subsequently verified as cryptic translocation between chromosomes Y and 15. Methods DNA was extracted from the patient's peripheral blood. A range of genetic testing was performed, including conventional chromosomal karyotyping, short tandem repeat (STR) analysis for azoospermia factor (AZF) region, fluorescence in situ hybridization (FISH) with specific probes groups of DXZ1/DYZ3, DYZ3/D15Z1/PML and SRY/D15Z1/PML, and chromosomal microarray analysis (CMA) for genomic copy number variations (CNVs). Results The patient was found to have an apparent 45,X karyotype. STR analysis showed that he possessed a short arm of the Y chromosome, including the SRY gene; however, he was missing the long arm of the Y chromosome, including AZFa + b + c and Yqter. A FISH assay of DXZ1 and DYZ3 probes showed a green signal of the X centromere and a red of the Y centromeric signal on a D-group-sized chromosome. By FISH assaying with D15Z1 and DYZ3 probes, chromosomes 15 and Y centromeric signals appeared closely on a single chromosome, as the PML control probe ascertained. A further FISH assay with D15Z1 and SRY probes revealed a signal of the SRY gene at the end of one arm of chromosome 15. The result of the CMA indicated a deletion with an approximate size of 45.31 Mb spanning from Yq11 to Yter. Conclusion Our study enriched the karyotype-phenotype correlation of Y and 15 chromosomes translocation. It strengthened the critical roles of molecular genetic techniques in identifying the chromosomal breakpoints and regions involved. Genetic aetiology can guide early intervention in childhood and assisted reproduction in adulthood.

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Section: Discussionmentioning

confidence: 99%

Verification of a cryptic t(Y;15) translocation in a male with an apparent 45,X karyotype

Qin

Wang

et al. 2022

Mol Cytogenet

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“…Human embryos will develop towards the male gender as long as the SRY gene is present in the genome, even without the Y chromosome. That may also be the primary molecular basis for 45,X males [27,28]. Based on molecular testing, the seemingly "pure" 45,X male may not exist.…”

Section: Discussionmentioning

confidence: 99%

Verification of a Cryptic T(Y;15) Translocation in a Male With an Apparent 45,X Karyotype

Qin¹,

Zhang²,

Chen³

et al. 2021

Preprint

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BackgroundA rare disease is that an individual with a non-chimeric karyotype of 45, X develops into a male. We explored the genetic aetiology of an infertility male with an apparent 45, X karyotype, which was subsequently verified as cryptic translocation between chromosomes Y and 15. MethodsPeripheral blood sample was collected from the patient and subjected to a range of genetic testing, including conventional chromosomal karyotyping, short tandem repeat (STR) analysis for azoospermia factor (AZF) region, fluorescence in situ hybridization (FISH) with specific probes for CSP X/CSP Y, CSP Y/D15Z1/PML and SRY/D15Z1/PML, and chromosomal microarray analysis (CMA) for genomic copy number variations (CNVs). ResultsThe patient was found to have an apparent 45,X karyotype. STR analysis showed that he possessed a short arm of the Y chromosome, including the SRY gene but the absence of a long arm of the Y chromosome, including AZFa+b+c and Yqter. A FISH assay using CSP X and CSP Y probes showed a green signal at the centromere of the X chromosome and a red signal for the Y centromeric sequence on a D-group-sized chromosome. By FISH assaying with D15Z1 and CSP Y probes, chromosomes 15 and Y centromeric signals appeared closely on a single chromosome, as ascertained by the PML control probe. A further FISH assay with D15Z1 and SRY probes revealed a signal of the SRY gene at the end of one arm of chromosome 15. The result of the CMA indicated a deletion with an approximate size of 45.31 Mb spanning from Yq11 to Yter. ConclusionAlthough the 45,X male patient did not harbour an intact Y chromosome, his genome contained the SRY gene derived from the translocation of the Yp, which probably triggered the male differentiation and development. Imbalanced translocations of Yp to other chromosomes can result in short stature and infertility among patients. Delineation of the genetic aetiology can guide early intervention and assisted reproduction in adulthood.

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Prenatal Diagnosis of Sex Chromosome Abnormalities

Milunsky

2021

Genetic Disorders and the Fetus

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45,X Karyotype in an Infertile Man: How Is This Possible?

Cited by 3 publications

References 9 publications

Verification of a cryptic t(Y;15) translocation in a male with an apparent 45,X karyotype

Verification of a cryptic t(Y;15) translocation in a male with an apparent 45,X karyotype

Verification of a Cryptic T(Y;15) Translocation in a Male With an Apparent 45,X Karyotype

Prenatal Diagnosis of Sex Chromosome Abnormalities

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