PMID- 25096371 OWN - NLM STAT- MEDLINE DCOM- 20150701 LR - 20141105 IS - 1939-6376 (Electronic) IS - 1939-6368 (Linking) VI - 60 IP - 6 DP - 2014 Dec TI - Different segregation patterns in five carriers due to a pericentric inversion of chromosome 1. PG - 367-72 LID - 10.3109/19396368.2014.948580 [doi] AB - Pericentric inversion can produce recombinant gametes; however, meiotic segregation studies on the relationship between the frequency of recombinants and the inverted segment size are rare. Triple-color fluorescence in situ hybridization (FISH) was performed to analyze the meiotic behavior in five inv(1) carriers with different breakpoints. Recombination gametes were absent in Patient 1, whereas the percentages of the recombinants in Patients 2, 3, 4, and 5 were of 9.2%, 15.3%, 17.3%, and 40.9%, respectively. A significant difference was present for the frequencies of the recombinant spermatozoa among the five patients (p < 0.001). For each patient, the frequency of the two types of recombinant gametes (dup(1p)/del(1q) or del(1p)/dup(1q)) did not exhibit a significant difference in comparison with the expected 1:1 ratio (p > 0.05). The meiotic segregation of nine inv(1) carriers (including those presented in this paper) is now available. A significant correlation was discovered between the rate of recombination and the proportion of the chromosome implicated in the inversion (R = 0.9435, p < 0.001). The frequency of the recombinant gametes was directly related to the proportion of the chromosome that was inverted. Sperm-FISH allowed an additional comprehension of the patterns of meiotic segregation and provided accurate genetic counseling. FAU - Luo, Yuqin AU - Luo Y AD - Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine , Hangzhou , China . FAU - Xu, Chenming AU - Xu C FAU - Sun, Yixi AU - Sun Y FAU - Wang, Liya AU - Wang L FAU - Chen, Songchang AU - Chen S FAU - Jin, Fan AU - Jin F LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20140806 PL - England TA - Syst Biol Reprod Med JT - Systems biology in reproductive medicine JID - 101464963 SB - IM MH - Adult MH - Chromosome Breakpoints MH - *Chromosome Inversion MH - *Chromosome Segregation MH - *Chromosomes, Human, Pair 1 MH - Fertility/genetics MH - Genetic Predisposition to Disease MH - Humans MH - In Situ Hybridization, Fluorescence MH - Infertility, Male/*genetics/pathology/physiopathology MH - Male MH - *Meiosis MH - Phenotype MH - Recombination, Genetic MH - Sperm Count MH - Sperm Motility MH - Spermatozoa/*pathology OTO - NOTNLM OT - Chromosome 1 OT - infertility OT - meiotic segregation OT - pericentric inversion OT - sperm FISH EDAT- 2014/08/07 06:00 MHDA- 2015/07/02 06:00 CRDT- 2014/08/07 06:00 PHST- 2014/08/07 06:00 [entrez] PHST- 2014/08/07 06:00 [pubmed] PHST- 2015/07/02 06:00 [medline] AID - 10.3109/19396368.2014.948580 [doi] PST - ppublish SO - Syst Biol Reprod Med. 2014 Dec;60(6):367-72. doi: 10.3109/19396368.2014.948580. Epub 2014 Aug 6.