PMID- 12414006
OWN - NLM
STAT- MEDLINE
DCOM- 20021209
LR  - 20190707
IS  - 0015-0282 (Print)
IS  - 0015-0282 (Linking)
VI  - 78
IP  - 5
DP  - 2002 Nov
TI  - Infertile spermatozoa in a human carrier of robertsonian translocation 14;22.
PG  - 1127-30
AB  - OBJECTIVE: To present the ultrastructural, functional, and chromosomal analyses 
      of spermatozoa from an infertile man with normal phenotype and chromosomal 
      translocation 14;22. DESIGN: Case report. SETTING: Regional Reference Center for 
      Male Infertility in Siena, Italy. PATIENT(S): A 36-year-old man with primary 
      infertility for 3 years and his parents. INTERVENTION(S): Family history and 
      lymphocytic karyotypes, physical and hormonal assays, and semen analysis. MAIN 
      OUTCOME MEASURE(S): Morphological sperm evaluation was performed by light, 
      fluorescent, and electron microscopy; chromosomal constitution was examined by 
      the fluorescence in situ hybridization (FISH) technique. The penetration ability 
      of spermatozoa was checked by the hamster test. RESULT(S): The spermatozoa of the 
      patient showed unusual ultrastructural defects. The nuclei were large, 
      spheroidal, and generally uncondensed; the acrosomes were frequently absent or 
      reduced; and the axonemes were often devoid of dynein arms or central singlet 
      tubules. These characteristics are related to immaturity. The lymphocytic 
      karyotype revealed a robertsonian translocation 14;22 in the sterile patient and 
      his mother. FISH sperm analysis demonstrated a high frequency of diploidy for the 
      chromosome 18,XY. The hamster penetration test gave negative results. 
      CONCLUSION(S): The unusual structural sperm immaturity is associated with the 
      translocation 14;22. This chromosomal anomaly may therefore negatively influence 
      the spermatogenesis; an interchromosomal effect on meiosis segregation is also 
      suggested.
FAU - Baccetti, Baccio
AU  - Baccetti B
AD  - Department of Pediatrics, Obstetrics, and Reproductive Medicine, Section of 
      Biology, University of Siena, Siena, Italy. baccetti@unisi.it
FAU - Capitani, Serena
AU  - Capitani S
FAU - Collodel, Giulia
AU  - Collodel G
FAU - Estenoz, Mariela
AU  - Estenoz M
FAU - Gambera, Laura
AU  - Gambera L
FAU - Piomboni, Paola
AU  - Piomboni P
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  - Animals
MH  - Chromosomes, Human, Pair 14/genetics
MH  - Chromosomes, Human, Pair 22/genetics
MH  - Cricetinae
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infertility, Male/*genetics/*pathology
MH  - Male
MH  - Microscopy, Electron
MH  - Spermatozoa/*ultrastructure
MH  - Translocation, Genetic
EDAT- 2002/11/05 04:00
MHDA- 2002/12/10 04:00
CRDT- 2002/11/05 04:00
PHST- 2002/11/05 04:00 [pubmed]
PHST- 2002/12/10 04:00 [medline]
PHST- 2002/11/05 04:00 [entrez]
AID - S0015028202033794 [pii]
AID - 10.1016/s0015-0282(02)03379-4 [doi]
PST - ppublish
SO  - Fertil Steril. 2002 Nov;78(5):1127-30. doi: 10.1016/s0015-0282(02)03379-4.