Molecular-cytogenetic study of de novo mosaic karyotype 45,X/46,X,i(Yq)/46,X,idic(Yq) in an azoospermic male: Case report and literature review

Abstract

The present study describes a 36‑year‑old male with the 45,X/46,X,i(Yq)/46,X,idic(Yq) karyotype, who suffered from azoospermia attributed to maturation arrest of the primary spermatocyte. To the best of our knowledge, this rare karyotype has not yet been reported in the literature. The results of detailed molecular‑cytogenetic studies of isodicentric (idic)Y chromosomes and isochromosome (iso)Y, which are identified in patient with complex mosaic karyotypes, are presented. The presence of mosaicism of the three cell lines 45,X, 46,X,i(Yq) and 46,X,idic(Yq) may be a contributing factor for spermatogenic failure, in addition to the instability of iso/idic Y chromosomes to pass the spermatogenesis process. Possible mechanisms of the formation of the mosaic karyotype and karyotype‑phenotype correlations are discussed. The current study highlights that routine karyotype analysis and fluorescent in situ hybridization‑based technology are more useful in detecting mosaic chromosomal abnormality, predicting the clinical features of patients during genetic counseling and improving artificial reproductive technologies.

Prenatal diagnosis of sex chromosome mosaicism with two marker chromosomes in three cell lines and a review of the literature

“…In conclusion, multiple studies have observed that patients with 45,X/46,X,idic(Y)(q11) or 45,X/46,X,del(Y) (q11.2) exhibit ambiguous external genitalia, azoospermia or Turner syndrome (8)(9)(10)(11)(12)(13)(14)(15)(16). Therefore, it is likely that the fetus in the present study would suffer similar syndromes upon maturation.…”

“…As in the majority of previous studies with idicY and delY (1,5,7,8,(12)(13)(14)(15)(16), the breakpoint in the fetus is in the long arm of chromosome Y, which results in the duplication of the entire short arm and centromere, and a deletion of the distal Yq. A review by Hsu (6) reported 74 cases with mos45,X/46,X,idic(Y)(q11).…”

“…A dicentric Y chromosome is a common abnormal structural rearrangement between sister chromatids and is unstable during cell division; therefore, it is highly likely to generate various cell lines, including 45,X and delY cell lines. Previous studies have mostly described individuals with ambiguous genitalia and mixed gonadal dysgenesis who were diagnosed with sex chromosome mosaicism postnatally (1,(8)(9)(10)(11)(12)(13)(14)(15)(16). However, there are few studies reporting prenatally diagnosed fetuses, particularly with three different cell lines.…”

Prenatal genetic analysis and differential pregnancy outcomes of two de novo cases showing mosaic isodicentric Y chromosome

“…After delivery, fetus 1 could present with symptoms of male Turner syndrome, such as short stature, low intelligence, lack of puberty, primary hypogonadism hypoplasia, and gonadal cytoma(http://ssmc-tl.com/ssmcy-male.html#si) [19][20][21]. Furthermore, because the AZFb+c region was deleted in this fetus, he would become completely infertile upon reaching adulthood.…”

Localization of the <b><i>SRY</i></b> Gene on Chromosome 3 in a Patient with Azoospermia and a Complex Karyotype 45,X/46,X,i(Y)(q10)/46,XX/ 47,XX,i(Y)(q10)

“…In association with infertility, 46,XXY, 46,XYY, 46,XX males, 45,X/46,XY [Neto et al, 2016], 45,X/46,X,i(Yq) [Ferguson et al, 1969], 45,X/46,X,i(Yq)/46,XY [Taylor et al, 1978], 45,X/46,X,i(Yq)/46,X,idic(Yq) [Jiang et al, 2017], 45,X/46,X,idic(Y)/46,XY,idic(Y) [Caglayan et al, 2009] [Haaf and Schmid, 1990] have been reported. Here, an azoospermic male from India was found to have 4 different cell lines, 45,X/46,X,i (Yq)/46,XX/47,XX,i(Yq), which is reported for the first time to the best of our knowledge.…”