Table 1 Summary of chromosomal breakpoints and clinical phenotypes of individuals with a 45,X,dic(Y;15) karyotype

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 54 kg and a height of 154 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