PMID- 23955671
OWN - NLM
STAT- MEDLINE
DCOM- 20140305
LR  - 20220317
IS  - 0065-2598 (Print)
IS  - 0065-2598 (Linking)
VI  - 791
DP  - 2014
TI  - Chromosomal aberrations and aneuploidies of spermatozoa.
PG  - 27-52
LID - 10.1007/978-1-4614-7783-9_3 [doi]
AB  - Chromosomal abnormalities are relevant causes of human infertility, affecting 2 
      -14 % of infertile males. Patients with seminal anomalies could be affected by 
      improper meiotic recombination and increased sperm chromosome aneuploidy. Since 
      the transmission of a haploid chromosomal asset is fundamental for embryo 
      vitality and development, the study of sperm chromosomes has become fundamental 
      because intracytoplasmic sperm injection allows fertilization in cases of severe 
      male infertility.In this chapter we summarize the data on the incidence of sperm 
      aneuploidy, detected by fluorescence in situ hybridization (FISH), in infertile 
      men with normal or abnormal karyotype. The possibility of reducing sperm 
      chromosomal imbalance is also reported.Among control males, the lowest aneuploidy 
      rate was detected (range: 0.09 -0.14 % for autosomes; 0.04 -0.10 % for 
      gonosomes). In infertile patients with normal karyotype, the severity of semen 
      alteration is correlated with the frequency of aneuploidy, particularly for X and 
      Y chromosomes. Among patients with abnormal karyotype, 47,XXY and 47,XYY carriers 
      showed a high variability of sperm aneuploidy both for gonosomes and autosomes. 
      In Robertsonian translocation carriers, the increase in aneuploidy rate was 
      particularly evident for total sex disomy, and resulted mainly from 
      interchromosomal effect (ICE). In reciprocal translocation carriers, a high 
      percentage of unbalanced sperm (approximately 50 %) was detected, perhaps mostly 
      related to ICE.Sperm chromosomal constitution could be analyzed to obtain more 
      accurate information about the causes of male infertility. It would be worthwhile 
      to evaluate the benefits of a therapy with recombinant Follicle Stimulating 
      Hormone (rFSH) on sperm chromosome segregation in selected infertile males.
FAU - Piomboni, Paola
AU  - Piomboni P
AD  - Department of Molecular and Developmental Medicine, University of Siena, Viale 
      Bracci 14, 53100, Siena, Italy, paola.piomboni@unisi.it.
FAU - Stendardi, Anita
AU  - Stendardi A
FAU - Gambera, Laura
AU  - Gambera L
LA  - eng
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Adv Exp Med Biol
JT  - Advances in experimental medicine and biology
JID - 0121103
SB  - IM
MH  - *Aneuploidy
MH  - Animals
MH  - *Chromosome Aberrations
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/standards
MH  - Infertility, Male/genetics/therapy
MH  - Male
MH  - Semen Analysis/standards
MH  - Spermatozoa/*abnormalities
EDAT- 2013/08/21 06:00
MHDA- 2014/03/07 06:00
CRDT- 2013/08/20 06:00
PHST- 2013/08/20 06:00 [entrez]
PHST- 2013/08/21 06:00 [pubmed]
PHST- 2014/03/07 06:00 [medline]
AID - 10.1007/978-1-4614-7783-9_3 [doi]
PST - ppublish
SO  - Adv Exp Med Biol. 2014;791:27-52. doi: 10.1007/978-1-4614-7783-9_3.