PMID- 28184250
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20200930
IS  - 1755-8166 (Print)
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 10
DP  - 2017
TI  - Meiotic outcome in two carriers of Y autosome reciprocal translocations: 
      selective elimination of certain segregants.
PG  - 1
LID - 10.1186/s13039-017-0303-y [doi]
LID - 1
AB  - BACKGROUND: Reciprocal Y autosome translocations are rare but frequently 
      associated with male infertility. We report on the meiotic outcome in embryos 
      fathered by two males with the karyotypes 46,X,t(Y;4)(q12;p15.32) and 
      46,X,t(Y;16)(q12;q13). The two couples underwent preimplantation genetic 
      diagnosis (PGD) enabling determination of the segregation types that were 
      compatible with fertilization and preimplantation embryo development. Both PGD 
      and follow up analysis were carried out via fluorescence in situ hybridization 
      (FISH) or array comparative genomic hybridization (aCGH) allowing the meiotic 
      segregation types to be determined in a total of 27 embryos. RESULTS: 
      Interestingly, it was seen that the number of female embryos resulting from 
      alternate segregation with the chromosome combination of X and the autosome from 
      the carrier gamete differed from the corresponding balanced males with derivative 
      Y and the derivative autosome by a ratio of 7:1 in each case (P = 0.003) while 
      from the adjacent-1 mode of segregation, the unbalanced male embryos with the 
      combination of der Y and the autosome were seen in all embryos from couple A and 
      in couple B with the exception of one embryo only that had the other chromosome 
      combination of X and derivative autosome (P = 0.011). In both cases the deficit 
      groups have in common the der autosome chromosome that includes the segment Yq12 
      to qter. CONCLUSION: The most likely explanation may be that this chromosome is 
      associated with the X chromosome at PAR2 (pseudoautosomal region 2) in the 
      sex-body leading to inactivation of genes on the autosomal segment that are 
      required for the meiotic process and that this has led to degeneration of this 
      class of spermatocytes during meiosis.
FAU - Ghevaria, Harita
AU  - Ghevaria H
AUID- ORCID: 0000-0003-4781-0062
AD  - Preimplantation Genetics Group, Institute for Women's Health, University College 
      London, 86-96 Chenies Mews, London, WC1E 6HX UK. ISNI: 0000000121901201. GRID: 
      grid.83440.3b
FAU - Naja, Roy
AU  - Naja R
AD  - Preimplantation Genetics Group, Institute for Women's Health, University College 
      London, 86-96 Chenies Mews, London, WC1E 6HX UK. ISNI: 0000000121901201. GRID: 
      grid.83440.3b
FAU - SenGupta, Sioban
AU  - SenGupta S
AD  - Preimplantation Genetics Group, Institute for Women's Health, University College 
      London, 86-96 Chenies Mews, London, WC1E 6HX UK. ISNI: 0000000121901201. GRID: 
      grid.83440.3b
FAU - Serhal, Paul
AU  - Serhal P
AD  - The Centre for Reproductive and Genetic Health, 230-232 Great Portland Street, 
      London, W1W 5QS UK.
FAU - Delhanty, Joy
AU  - Delhanty J
AD  - Preimplantation Genetics Group, Institute for Women's Health, University College 
      London, 86-96 Chenies Mews, London, WC1E 6HX UK. ISNI: 0000000121901201. GRID: 
      grid.83440.3b
LA  - eng
PT  - Journal Article
DEP - 20170202
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC5289000
OTO - NOTNLM
OT  - Infertility
OT  - Meiosis
OT  - Segregation
OT  - Y-autosome Translocation
EDAT- 2017/02/12 06:00
MHDA- 2017/02/12 06:01
PMCR- 2017/02/02
CRDT- 2017/02/11 06:00
PHST- 2016/10/31 00:00 [received]
PHST- 2017/01/13 00:00 [accepted]
PHST- 2017/02/11 06:00 [entrez]
PHST- 2017/02/12 06:00 [pubmed]
PHST- 2017/02/12 06:01 [medline]
PHST- 2017/02/02 00:00 [pmc-release]
AID - 303 [pii]
AID - 10.1186/s13039-017-0303-y [doi]
PST - epublish
SO  - Mol Cytogenet. 2017 Feb 2;10:1. doi: 10.1186/s13039-017-0303-y. eCollection 2017.