Document Detail


10, 15 reciprocal translocation in an infertile man: ultrastructural and fluorescence in-situ hybridization sperm study: case report.
MedLine Citation:
PMID:  14585878     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: Peculiar sperm defects are described in a sterile man heterozygous for a balanced translocation t(10;15) (q26;q12). As this structural reorganization was absent in the parents, the translocation must have appeared de novo in the present patient. METHODS: Spermatozoa were analysed under light and transmission electron microscopy (TEM). Fluorescence in-situ hybridization (FISH) was performed on the lymphocyte karyotype. Aneuploidy frequencies of chromosomes 18, X and Y in sperm nuclei, not involved in the translocation, were investigated using three-colour FISH. Dual- colour FISH was used to evaluate segregation of chromosomes 10, 15 in decondensed sperm nuclei. Moreover, three-colour FISH, using telomeric probes for chromosomes 10, 15 was performed in order to distinguish balanced and unbalanced gametes. RESULTS AND CONCLUSIONS: Overall, structural characteristics indicate general immaturity of the germinal cells. FISH sperm analysis detected an increase in chromosome 18 disomy (0.81%) suggesting an interchromosomal effect. A high frequency of diploidies, particularly 18,18,X,X and 18,18,X,Y, was also found. FISH segregation analysis for chromosomes 10, 15 indicated that 32.8% were balanced gametes, whereas 68.2% were unbalanced. Taken together, these data demonstrate in a male carrier of a reciprocal translocation t(10;15) the presence of diffuse ultrastructural sperm alterations and a high frequency of sperm aneuploidies. The existence of a correlation among these factors is proposed.
Authors:
B Baccetti; E Bruni; G Collodel; L Gambera; E Moretti; R Marzella; P Piomboni
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human reproduction (Oxford, England)     Volume:  18     ISSN:  0268-1161     ISO Abbreviation:  Hum. Reprod.     Publication Date:  2003 Nov 
Date Detail:
Created Date:  2003-10-30     Completed Date:  2004-06-24     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8701199     Medline TA:  Hum Reprod     Country:  England    
Other Details:
Languages:  eng     Pagination:  2302-8     Citation Subset:  IM    
Affiliation:
Department of Paediatrics, Obstetrics and Reproductive Medicine, Section of Biology, University of Siena, Italy. baccetti@unisi.it
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MeSH Terms
Descriptor/Qualifier:
Adult
Aneuploidy
Case-Control Studies
Cell Aging
Chromosomes, Human, Pair 10 / genetics
Chromosomes, Human, Pair 15 / genetics*
Chromosomes, Human, Pair 18 / genetics
Chromosomes, Human, X / genetics
Chromosomes, Human, Y / genetics
Diploidy
Gene Frequency
Heterozygote
Humans
In Situ Hybridization, Fluorescence
Infertility, Male / genetics*,  pathology,  physiopathology
Karyotyping
Male
Microscopy, Electron
Spermatozoa / ultrastructure*
Translocation, Genetic*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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