Abstract
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 infertile male with an apparent 45,X karyotype, which was subsequently verified as cryptic translocation between chromosomes Y and 15.MethodsDNA 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).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; 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.ConclusionOur 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.
Highlights
A rare disease is that an individual with a non-chimeric karyotype of 45,X develops into a male
azoospermia factor (AZF) region deletion of the Y chromosome is often presented as azoospermia and infertility [8]
We hereby report on a male with an apparent 45,X karyotype, which was subsequently verified as cryptic translocation between chromosomes Y and 15
Summary
Subject The patient, a 27-year-old male, was referred to our hospital due to primary infertility. The levels of sex hormones examined at another hospital were as follows: testosterone: 15.12 nmol/L (reference value: 4.94–32.01 nmol/L), prolactin: 168.09 nmol/L (reference value: 77.75–435.92 nmol/L), estradiol: 70.4 pmol/L (reference value: 40.4–161.5 pmol/L), luteinizing hormone: 5.33 IU/L (reference value: 0.57–12.07 IU/L), follicle-stimulating hormone 13.24 IU/L (reference value: 0.95–11.95 IU/L). His father and mother denied a family history of genetic disorders and consanguinity. The data were analyzed by using GeneMapper software These specific STR loci are selected mainly based on sex chromosome ploidy and AZF microdeletion analysis. Comparison of the clinical phenotypes of patients with a 45,X,t (Y;15) karyotype Cases with 45,X,dic(Y;15) karyotype has been searched for in the previous report, and their clinical phenotypes were compared
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