Am. Estop et al., THE MEIOTIC SEGREGATION PATTERN OF A RECIPROCAL TRANSLOCATION T(10-12)(Q26.1-P13.3) BY FLUORESCENCE IN-SITU HYBRIDIZATION SPERM ANALYSIS, European journal of human genetics, 5(2), 1997, pp. 78-82
The meiotic segregation of chromosomes 10 and 12 was analyzed in a mal
e heterozygous for a reciprocal translocation, t(10;12)(q26.1;p13.3),
using fluorescence in situ hybridization (FISH). Centromeric specific
probes that detect alpha satellite sequences of chromosomes 10 and 12
were used. A total of 10,049 spermatozoa were analyzed. The frequencie
s of alternate/adjacent 1, adjacent 2, and 3:1 modes of segregation we
re: 84.25, 10.95%, and 4.42%, respectively. Diploidy was present in 0.
23% of spermatozoa. Similar segregation patterns have been reported fo
r this donor by direct karyotyping of sperm cells. FISH is a valuable
technique for studying meiotic segregation patterns in that larger sam
ples can be studied in a relatively short time. However, it does not p
rovide information on the full chromosome complement of the spermatozo
on.