inv(9)(p24q13) in three sterile brothers.
Only nine non-polymorphic constitutional pericentric inversions of chromosome 9 have been described. We report on a familial inv(9)(p24q13) associated with sterility in three brothers. The mother's chromosomes were normal in blood lymphocytes (n=130); the father was already deceased and his karyotype unknown. However, the presence of any of the maternal chromosomes 9 (as assessed by C-banding) in her carrier children is inconsistent with the assumption of maternal mosaicism. Two single sisters were also carriers. The same rearranged chromosome 9 in the three sterile brothers can hardly be regarded as a fortuitous association, especially when the breakpoints are almost identical to those of the sole inversion previously found in an azoospermic male. If their father was a carrier, the observed sterility may be the result of 'chromosome anticipation', a phenomenon already invoked for certain familial chromosomal rearrangements.
Dávalos
I P
IP
División de Genética, CIBO, IMSS, Ap. Postal 1-3838, Jalisco, Guadalajara, Mexico.
Rivas
F
F
Ramos
A L
AL
Galaviz
C
C
Sandoval
L
L
Rivera
H
H
D000328:Adult; D007446:Chromosome Inversion; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D005260:Female; D005837:Genitalia, Male / Q000002:abnormalities; D006801:Humans; D007248:Infertility, Male / Q000097:blood / Q000235:genetics* / Q000473:pathology; D008297:Male; D009679:Nuclear Family; D009845:Oligospermia / Q000235:genetics; D010375:Pedigree