Re: Pellestor et al. on sperm chromosomes.
Explore the source record for details and available documents.
Humans↗
Biomedical subjects
A Genescà
Publications and source records attributed to A Genescà.
Human sperm chromosome studies in a reciprocal translocation t(2;5).
Sperm chromosome complements have been studied in a man heterozygous for a reciprocal translocation t(2;5)(p11;q15). Human sperm chromosomes were obtained after fertilization of zona-free hamster eggs. A total of 75 human sperm metaphases were analysed. On the complements studied, 59 (78.6%) resulted from a 2:2 segregation and 16 (21.3%) from a 3:1 segregation, 4:0 segregation was not observed. Our results indicate that at least 36% of sperm complements were unbalanced with respect to the translocation. The frequency of other chromosome anomalies unrelated to the translocation was 16%.
Adult↗
Human sperm chromosomes.
Sperm chromosome studies have been performed in 70 normal males. The incidence of aneuploidy in this group is approximately 3-4%, and that of structural anomalies close to 5%. In carriers of reciprocal or Robertsonian translocations, the results are extremely variable, with percentages of unbalanced sperm from 8 to 87%. No unbalanced spermatozoa have been observed in patients with pericentric or paracentric inversions. In cancer patients treated with radio and/or chemotherapy, the incidence of chromosome abnormalities is much higher, and significantly different from that found in controls.
Aneuploidy↗
Expression of a possible constitutional "hot spot" in sperm chromosomes of a patient treated for Wilms' tumor.
Sperm chromosomes were studied in a man who was treated for Wilms' tumor with radiotherapy (RT) and chemotherapy (CT) 18 years ago. Human pronuclear sperm chromosomes were obtained after penetration of zona-free hamster eggs. Eighty-nine sperm chromosome complements were analyzed; 12.4% of them showed structural anomalies. This percentage was statistically different from the one found in our laboratory for controls (p less than 0.05). Five of eleven structurally abnormal metaphases had the same aberration: fission of chromosome #1 with the breakpoint at or near the centromere. Breaks and rearrangements of chromosome #1, often involving the centromere region, are among the most frequent anomalies found in Wilms' tumor cells.
Adult↗
Study of human sperm chromosomes by sequential transmission and scanning electron microscopy.
We describe a method of observing human sperm metaphases by sequential transmission and scanning electron microscopy. This permits the analysis of ultrastructural aspects of sperm chromosomes and allows the relationship between ultrastructure, heterochromatin condensation, and the behaviour and staining properties of sperm chromosomes and heterochromatic regions to be determined.
Centromere↗
G-banding of human sperm chromosomes.
G-banded human sperm chromosomes are routinely obtained in our laboratory using a modification of the method described by Martin et al. (1982). The study of banded sperm chromosomes is essential for the genetic counseling of male carriers of balanced chromosome rearrangements.
Chromosome Banding↗