Analysis of sperm chromosome complements from a man heterozygous for a pericentric inversion of chromosome 1

• Published in: Human genetics Vol. 93; no. 2; p. 135
• Main Authors: Martin, R H, Chernos, J E, Lowry, R B, Pattinson, H A, Barclay, L, Ko, E
• Format: Journal Article
• Language: English
• Published: Germany 01.02.1994
• Subjects: Adult; Chromosome Aberrations - genetics; Chromosome Banding; Chromosome Disorders; Chromosome Inversion; Chromosomes, Human, Pair 1; Heterozygote; Humans; Male; Spermatozoa
• DOI: 10.1007/BF00210597
• ISSN: 0340-6717

Human sperm chromosomes were studied in a man heterozygous for a pericentric inversion of chromosome (1)(p31q12). Q-banded pronuclear chromosomes were analyzed after in vitro penetration of golden hamster oocytes. A total of 159 sperm were examined: 54% bearing the inverted chromosome 1 and 46% the normal chromosome 1. These frequencies are not significantly different from the theoretical 1:1 ratio. There were no recombinant sperm with duplications or deficiencies, suggesting that a pairing loop failed to form or that crossing-over was suppressed. The frequency of abnormalities unrelated to the inversion was 5% for numerical, 8.8% for structural, 2.5% for numerical and structural, values not significantly different from control donors studied in our lab. The frequencies of X- and Y-bearing sperm were 46% and 54%, respectively, not significantly different from the expected value of 50%. This is the fifth pericentric inversion studied by human sperm chromosome analysis; recombinant chromosomes have been observed in two of the five cases. Some of the factors associated with an increased risk of recombinant sperm appear to be inversion size greater than 30% of the chromosome and chromosome breakpoints in G-light bands.