PMID- 20019162
OWN - NLM
STAT- MEDLINE
DCOM- 20100317
LR  - 20100108
IS  - 1460-2407 (Electronic)
IS  - 1360-9947 (Linking)
VI  - 16
IP  - 2
DP  - 2010 Feb
TI  - Combined FISH and PRINS sperm analysis of complex chromosome rearrangement 
      t(1;19;13): an approach facilitating PGD.
PG  - 111-6
LID - 10.1093/molehr/gap105 [doi]
AB  - Complex chromosome rearrangements (CCRs) are structural aberrations involving 
      three or more breakpoints on two or more chromosomes. These CCRs result in a high 
      rate of chromosome imbalances potentially leading to subfertility and congenital 
      abnormality. In this study, we analysed meiotic segregation in the sperm of a 
      patient with a familial CCR 46, XY,t(1;19;13)(p31;q13.2;q31)mat included in an 
      intracytoplasmic sperm injection program because of oligoasthenozoospermia. The 
      rearrangement was first identified using conventional and molecular cytogenetic 
      methods. Primed in situ labelling (PRINS) and fluorescence in situ hybridization 
      (FISH) techniques were then combined allowing the simultaneous use of five 
      fluorochromes on the same sperm preparation, for the segregation analysis and the 
      evaluation of the reproductive options for this patient. Segregation analysis was 
      performed in a total of 1822 sperm nuclei from the translocation carrier. The 
      percentage of unbalanced sperm was 75.9%, including 34.1% from 3:3 segregation, 
      38.2% from 4:2 segregation, 3.5% from 5:1 segregation and 0.05% from 6:0 
      segregation. Only 14.8% of sperm nuclei were consistent with a normal or balanced 
      chromosome complement. In conclusion, chromosome segregation analysis combining 
      FISH and PRINS was performed in sperm from a CCR carrier using five 
      fluorochromes. These results advance our understanding of the mechanisms of 
      meiotic segregation, and facilitate the assessment of the usefulness of 
      preimplantation genetic diagnosis procedures in CCR couples.
FAU - Loup, V
AU  - Loup V
AD  - Departement de Medecine et Biologie de la Reproduction, CHU Montpellier, Hopital 
      Arnaud deVilleneuve, 371 Avenue du Doyen Gaston Giraud, 34295 Montpellier, Cedex 
      5, France.
FAU - Bernicot, I
AU  - Bernicot I
FAU - Janssens, P
AU  - Janssens P
FAU - Hedon, B
AU  - Hedon B
FAU - Hamamah, S
AU  - Hamamah S
FAU - Pellestor, F
AU  - Pellestor F
FAU - Anahory, T
AU  - Anahory T
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20091217
PL  - England
TA  - Mol Hum Reprod
JT  - Molecular human reproduction
JID - 9513710
SB  - IM
MH  - Adult
MH  - *Chromosome Aberrations
MH  - Chromosome Segregation/genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Male
MH  - Meiosis/genetics
MH  - Preimplantation Diagnosis/*methods
MH  - Sperm Injections, Intracytoplasmic
MH  - Spermatozoa/*metabolism
EDAT- 2009/12/19 06:00
MHDA- 2010/03/18 06:00
CRDT- 2009/12/19 06:00
PHST- 2009/12/19 06:00 [entrez]
PHST- 2009/12/19 06:00 [pubmed]
PHST- 2010/03/18 06:00 [medline]
AID - gap105 [pii]
AID - 10.1093/molehr/gap105 [doi]
PST - ppublish
SO  - Mol Hum Reprod. 2010 Feb;16(2):111-6. doi: 10.1093/molehr/gap105. Epub 2009 Dec 
      17.