From: Verification of a cryptic t(Y;15) translocation in a male with an apparent 45,X karyotype
Case | References | Chromosomal karyotype | Clinical phenotype | Analytical method | Whether the derivative chromosome contains the Y centromere | Whether the derivative chromosome contains the 15 centromere |
---|---|---|---|---|---|---|
1 | Present study | 45,X,dic(Y;15)(q11;p11).ish dic(Y;15)(SRY + ,DYZ3 + ;D15Z1 + ,PML +) | A 27-years-old male, with a weight 51.5 kg and a height of 160 cm, had small testes. Laboratory tests found normal level of testosterone, high level of follicle-stimulating hormone. He had azoospermia due to deletion of AZFa + b + c loci, but had a  45,X karyotype | Karyotyping, FISH, Multiplex PCR, CMA | Yes | Yes |
2 | Subrt et al. [15] | 45,X,t(Y;15)(Yqter → Yp11::15q11 → 15qter) | Four males from four consecutive generations of a pedigree harbored 45,X,t(Y;15) translocations but with a normal phenotype | Karyotyping | Yes | No |
3 | Mahmut [18] | 45,X,t(Y;15)(q12;q11) | The karyotypes of father and mother were 46,XY, t(15;20)(q11; 13) and 46,XX, respectively, but the fetus was a 45,X,t(Y;15) male, and no abnormal phenotype was observed up to one year after birth | Karyotyping, FISH | Yes | No |
4 | White et al. [19] | 45,X,dic(Y;15)(q11.23;p11.1) | The karyotype of the fetus was the same as that of the father, and no abnormal phenotype was observed | Karyotyping, FISH Microsatellite analysis | Yes | Yes |
5 | Lin et al. [22] | 45,X, der(15)(?::p11.2 → qter)dn. ish psu dic(Y;15)(q12;p11.2)(D15Z1 + , SNRPN + , PML + ; SRY + ,DYZ3 + , DYZ1 +) | A 33-year-old male had normal intelligence, growth and development, testicular size and sex hormones level but infertility. He had severe oligoasthenospermia due to partial AZFc (sY254) deletion | Karyotyping, FISH, Multiplex PCR | Yes | Yes |
6 | Antonio et al. [8] | 45,X,der(15)(Ypter → q22.21::15p11.2 → qter) | A 41-year-old male, 58 kg in weight and 157 cm in height, had small testis, epididymis dystrophy. Laboratory tests found low testosterone, high gonadotropin, azoospermia, and deletion of AZFa + b + c loci | Karyotyping, FISH, Y microdeletion analysis | Yes | Yes |
7 | Schempp [23] | 45,X,t(Y;15)(p10;p12) | A 19-year-old male had a weight of 54Â kg and a height of 154Â cm. He had normal mental development and no deformity. He had a de novo translocation between chromosomes Y and 15. His primary anomaly is azoospermia | Different chromosome staining | Yes | Yes |