Detailed analysis of isodicentric Y in a case with azoospermia and 45,x/46,x,idic(Y) mosaicism.
نویسندگان
چکیده
Isodicentric chromosomes are the most commonly reported aberrations of the human Y chromosome. We characterized the isodicentric Y chromosome from an azoospermic male by fluorescence in situ hybridization (FISH) and PCR. The patient was a 33-year-old man who visited our hospital for evaluation of infertility. He expressed male external genitalia and showed normal testosterone levels. However, severe varicocele on both sides and hydrocele of the right side were found upon ultrasonography of the scrotum, and no sperm were found on semen analysis. The patient showed 46,X,idic(Y)(q11.22)[58]/45,X[12] karyotype. FISH demonstrated the presence of two centromeres and two SRY regions (74.0% of cells counted). PCR showed the breakpoint between SY161 and SY121 in Yq11.221-q11.222.
منابع مشابه
Gonadal mosaicism 45,X/46,X,psu dic(Y)(q11.2) resulting in a Turner phenotype with mixed gonadal dysgenesis.
A two-year-and-eight-month-old girl presented with clitoromegaly and short stature. Two cell lines, 45,X and 46,X,idic(Y)(q11.2), were observed. Cytogenetic and fluorescence in situ hybridisation investigations were carried out on her peripheral lymphocytes and gonadal cells, to determine the genotype-phenotype effect with respect to differential tissue distribution, effects of the sex determin...
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متن کاملA Case Report of a Child with a Marker Chromosome Presenting as Isodicentric Yp and Literature Review.
Abnormal Y chromosome includes Yq– of various extents (excluding normal Yq variation), Yp–, r(Y), and isochromosomes or isodicentric chromosomes, written variously as i(Yp), idic(Yp), i(Yq), and idic(Yq) [1]. The least rare of these rare conditions is the Y isochromosome, or isodicentric chromosome, usually seen as 46,X,i(Y)(p10) or 46,X,i(Y) (q11), in which the essential imbalance is a double ...
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Mosaicism introduces wide variability into the clinical expression of numerical and unbalanced structural chromosomal abnormalities. The phenotypic range of variability of 45,X/46,XY mosaicism extends from Turner syndrome to mixed gonadal dysgenesis to normal males. The specific phenotype is primarily dependent on the chromosomal constitution of the developing gonad. Similar phenotypic variabil...
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CONTEXT 45,X/46,Xidic(Y) mosaicism demands careful and thorough study because of both its variable clinical features and its potential complications. CASE REPORT The present case relates to a three-year-old girl with the mosaic karyotype 46,X,idic(Y)(q11.2)[23]/45,X[6]. She had no signs of virilization or Turner's syndrome phenotype, but she was referred to our hospital because she presented ...
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عنوان ژورنال:
- Annals of clinical and laboratory science
دوره 45 2 شماره
صفحات -
تاریخ انتشار 2015