PMID- 20511301
OWN - NLM
STAT- MEDLINE
DCOM- 20101203
LR  - 20220408
IS  - 1460-2350 (Electronic)
IS  - 0268-1161 (Linking)
VI  - 25
IP  - 7
DP  - 2010 Jul
TI  - The paternal effect of chromosome translocation carriers observed from meiotic 
      segregation in embryos.
PG  - 1843-8
LID - 10.1093/humrep/deq111 [doi]
AB  - BACKGROUND: Human translocation carriers may present alterations in meiosis. 
      Understanding the mechanism of meiotic segregation of reciprocal translocations 
      is important for estimation of the risk of either pregnancy loss or birth 
      defects. The objective of this work was to estimate meiotic segregation rates in 
      preimplantation embryos from preimplantation genetic diagnosis (PGD) cycles of 
      female and male reciprocal translocation carriers. METHODS: In 20 cycles for 14 
      couples, PGD was performed on 118 day three embryos using fluorescence in situ 
      hybridization (FISH) with specific probes for each translocation. The meiotic 
      segregation modes and the effect of the paternal origin of translocated carrier 
      were estimated. RESULTS: Overall, the proportions of alternate segregation for 
      normal or balanced chromosome contents in preimplantation embryos from PGD cycles 
      in reciprocal male and female carriers were not significantly different (35.5 
      versus 23.8%). However, the frequencies of adjacent-1 and adjacent-2 segregation 
      were lower in embryos from female reciprocal translocation carriers than from 
      male carriers. For male translocations, alternate segregation was the most 
      frequent mode. The proportion of 3:1 segregation was the most frequent in female 
      translocations carriers. CONCLUSIONS: We report differences in segregation modes 
      in embryos obtained from PGD cycles according to the gender of reciprocal 
      translocation carrier. However, these differences did not affect the proportion 
      of balanced embryos and the take home baby rate. The analysis of the meiotic 
      behaviour of chromosomes and the differences between the meiotic products of 
      female and male for a chromosomal rearrangement could help predict the outcome of 
      PGD for translocation carriers.
FAU - Lledo, Belen
AU  - Lledo B
AD  - IB Biotech, Avda. Albufereta, 31, 03016 Alicante, Spain. 
      blledo@institutobernabeu.com
FAU - Ortiz, Jose A
AU  - Ortiz JA
FAU - Morales, Ruth
AU  - Morales R
FAU - Ten, Jorge
AU  - Ten J
FAU - de la Fuente, Pedro E
AU  - de la Fuente PE
FAU - Garcia-Ochoa, Carlos
AU  - Garcia-Ochoa C
FAU - Bernabeu, Rafael
AU  - Bernabeu R
LA  - eng
PT  - Journal Article
DEP - 20100528
PL  - England
TA  - Hum Reprod
JT  - Human reproduction (Oxford, England)
JID - 8701199
SB  - IM
MH  - Blastomeres/*ultrastructure
MH  - Chromosome Segregation/*physiology
MH  - Embryo Transfer
MH  - Female
MH  - Genetic Carrier Screening
MH  - *Heterozygote
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Meiosis/*physiology
MH  - Pregnancy
MH  - Pregnancy Outcome
MH  - Preimplantation Diagnosis
MH  - Sex Factors
MH  - *Translocation, Genetic
EDAT- 2010/06/01 06:00
MHDA- 2010/12/14 06:00
CRDT- 2010/06/01 06:00
PHST- 2010/06/01 06:00 [entrez]
PHST- 2010/06/01 06:00 [pubmed]
PHST- 2010/12/14 06:00 [medline]
AID - deq111 [pii]
AID - 10.1093/humrep/deq111 [doi]
PST - ppublish
SO  - Hum Reprod. 2010 Jul;25(7):1843-8. doi: 10.1093/humrep/deq111. Epub 2010 May 28.