An azoospermic male with presumably balanced reciprocal translocation
β Scribed by E. Lyberatou-Moraitou; P. Grigori Kostaraki; N. Goulandris; C. Lyberatos
- Book ID
- 119839452
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 144 KB
- Volume
- 23
- Category
- Article
- ISSN
- 0009-9163
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This report describes an azoospermic male carrying a Y/autosome translocation. The patient had a 46,X,t(Y;10)(q12;p13) chromosome complement in a lymphocyte culture. The cytogenetic study of this patient is described, together with testicular histology, spermiogram, hormone levels, and clinical hist
Balanced reciprocal translocation mosaicism is rarely reported in humans. Only two previous cases have been associated with an abnormal phenotype. We report on a third case of apparently balanced reciprocal translocation mosaicism associated with an abnormal phenotype, largely different from those r
A new case of X/autosome translocation in a male patient is described. Azoospermia and Klinefelter like stigmata can be explained as a consequence of the balanced translocation, or by disturbed X-chromosomal inactivation during spermiogenesis.