PMID- 16952512
OWN - NLM
STAT- MEDLINE
DCOM- 20060925
LR  - 20220311
IS  - 1556-5653 (Electronic)
IS  - 0015-0282 (Linking)
VI  - 86
IP  - 3
DP  - 2006 Sep
TI  - Tail stump syndrome associated with chromosomal translocation in two brothers 
      attempting intracytoplasmic sperm injection.
PG  - 719.e1-7
AB  - OBJECTIVE: To raise the possibility that a familial chromosomal translocation 
      associated with teratozoospermia can disrupt a gene necessary for flagellum 
      assembly. DESIGN: Case report. SETTING: University hospital. PATIENT(S): Two 
      brothers with infertility related to anomalies of meiotic division and of the 
      flagella assembly, presenting the same balanced 5-12 autosomal translocation. 
      INTERVENTION(S): Several intracytoplasmic sperm injection (ICSI) cycles in our 
      IVF department for both couples. MAIN OUTCOME MEASURE(S): Sperm analysis, 
      karyotypes, electron microscopy, and fluorescence in situ hybridization (FISH) 
      analysis of spermatozoa performed using probes coding for chromosomes X, Y, 13, 
      18, and 21. RESULT(S): In both brothers, sperm analysis indicated a tail stump 
      syndrome. Electron microscopy analysis displayed complex abnormalities, which 
      were probably related to meiotic errors. The FISH analysis indicated an increase 
      of diploid germ cells. Karyotypes of both patients revealed the same balanced 
      chromosomal t(5;12) (p15.1; q21) translocation. Results of ICSI cycles were 
      comparable for both couples. A twin pregnancy was achieved in one of these two 
      couples, but a spontaneous miscarriage occurred at 10 weeks of gestation. 
      CONCLUSION(S): The flagella anomalies raise the possibility that the 
      translocation disrupts a gene necessary for the flagellum assembly, although a 
      mutation in a gene unrelated to the chromosome breakpoints cannot be excluded.
FAU - Ravel, Celia
AU  - Ravel C
AD  - AP-HP, Hopital Tenon, Service d'Histologie Biologie de la Reproduction 
      Cytogenetique, Paris, France.
FAU - Chantot-Bastaraud, Sandra
AU  - Chantot-Bastaraud S
FAU - Siffroi, Jean-Pierre
AU  - Siffroi JP
FAU - Escalier, Denise
AU  - Escalier D
FAU - Antoine, Jean-Marie
AU  - Antoine JM
FAU - Mandelbaum, Jacqueline
AU  - Mandelbaum J
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Fertil Steril
JT  - Fertility and sterility
JID - 0372772
SB  - IM
MH  - Adult
MH  - Chromosome Aberrations
MH  - Genetic Predisposition to Disease/genetics
MH  - Humans
MH  - Infertility, Male/*genetics/*pathology/therapy
MH  - Male
MH  - Oligospermia/*genetics/*pathology/therapy
MH  - Siblings
MH  - *Sperm Injections, Intracytoplasmic
MH  - Sperm Tail/*pathology
MH  - Syndrome
EDAT- 2006/09/06 09:00
MHDA- 2006/09/26 09:00
CRDT- 2006/09/06 09:00
PHST- 2005/10/14 00:00 [received]
PHST- 2005/12/27 00:00 [revised]
PHST- 2005/12/27 00:00 [accepted]
PHST- 2006/09/06 09:00 [pubmed]
PHST- 2006/09/26 09:00 [medline]
PHST- 2006/09/06 09:00 [entrez]
AID - S0015-0282(06)01016-8 [pii]
AID - 10.1016/j.fertnstert.2005.12.078 [doi]
PST - ppublish
SO  - Fertil Steril. 2006 Sep;86(3):719.e1-7. doi: 10.1016/j.fertnstert.2005.12.078.