FAMILIAL INV(1)(P36.3Q12) ASSOCIATED WITH STERILITY

• Type: Another Publication in an International Scientific Journal
• Date: 1986

Authors

barros, a (Author) FMUP; TAVARES, MC (Author) Other; GOMES, MP (Author) Other; TAVARES, MP (Author) Other

Journal

Title: Journal of Medical Genetics

Vol. 23

Pages: 90-91

ISSN: 0022-2593

Publisher: BMJ PUBLISHING GROUP

Indexing

ISI Web of Knowledge - 7 Citations

Scopus - 5 Citations

Other information

Authenticus ID: P-001-VZ5

DOI: 10.1136/jmg.23.1.90-a

Abstract (EN): Chromosomal abnormalities are among the more important causes of reproductive failure. Three instances of familial pericentric inversion of chromosome 1 associated with sterility have been reported. In this paper I describe wat is to our knowledge, the first familial case of pericentric inversion of chromosome 1 involving the whole of the short arm and associated with infertility. The proband was a male aged 35 who came to our laboratory because of sterility. He reported a 33 year old brother who had been married for two years without children. Both patients had normal phenotypes and no history of testicular pathology. Semen analysis showed severe oligozoospermia in both and the few spermatozoa present were immotile. The patients refused testicular biopsy. Chromosome preparations in the proband and his brother, obtained from peripheral blood lymphocytes, were examined after G, C and high resolution R banding. G and R banding revealed in both an inverted short arm of chromosome 1 with the centromere located near the terminal part of the chromosome. C banding showed two blocks of C heterochromatin, the smaller one located in a subterminal position. This suggested that the breakpoints were at 1p36·3 and 1q12. This unusual pericentric inversion was also found in the mother of the proband, inv(1)(p36·3q12), showing that the inverted chromosome was inherited without meiotic recombination in the inverted segment. The karyotype of II.5 was normal. In this case, as in the three others previously reported, it is reasonable to assume that there may be an association between the inversion and failure of spermatogenesis.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 2