PMID- 11306798
OWN - NLM
STAT- MEDLINE
DCOM- 20010517
LR  - 20220317
IS  - 0301-0171 (Print)
IS  - 0301-0171 (Linking)
VI  - 92
IP  - 1-2
DP  - 2001
TI  - Meiotic segregation analysis by FISH investigation of spermatozoa of a 
      46,Y,der(X),t(X;Y)(qter-->p22::q11-->qter) carrier.
PG  - 63-8
AB  - Chromosome analysis performed on a 30-year-old man revealed a 
      46,Y,der(X),t(X;Y)(qter-->p22::q11-->qter) karyotype, confirmed by fluorescence 
      in situ hybridization (FISH). The man was of short stature, and no mental 
      retardation was noticed; genitalia and testes were normal, as were the patient's 
      FSH, LH, and testosterone blood levels. Sperm analysis showed azoospermia at the 
      time of the first sampling and severe oligozoospermia, with 125,000 
      spermatozoa/milliliter, at the time of the second sampling. The sperm gonosomal 
      complement of this patient and of a 46,XY donor were analyzed using multicolor 
      FISH with X- and Y-chromosome probes. Our results clearly indicated that germinal 
      cells carrying the translocation are able to complete the meiotic process by 
      producing spermatozoa compatible with normal embryonic development, with more 
      than 80% of the spermatozoa having either a Y chromosome or a der(X); however, a 
      high level of spermatozoa with gonosomal disomies was observed. We also found a 
      significant increase in the frequency of autosomal disomies in the carrier, which 
      would suggest an interchromosomal effect. All previously reported cases in adult 
      males were associated with azoospermia; testicular histological studies, 
      performed in patients carrying the same X;Y translocation, showed spermatogenetic 
      arrest after pachytene. To our knowledge, this is the first molecular analysis of 
      the gonosomal complement in spermatozoa of men with a 
      t(X;Y)(qter-->p22::q11-->qter).
FAU - Morel, F
AU  - Morel F
AD  - Service de Cytogenetique-Immunocytologie-Biologie du Developpement et de la 
      Reproduction, CECOS Besancon, Franche-Comte, Centre Hospitalier Universitaire 
      Saint Jacques, EA 3185 Genetique et Reproduction and Faculte de Medecine, 
      Besancon, France.
FAU - Fellmann, F
AU  - Fellmann F
FAU - Roux, C
AU  - Roux C
FAU - Bresson, J L
AU  - Bresson JL
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Switzerland
TA  - Cytogenet Cell Genet
JT  - Cytogenetics and cell genetics
JID - 0367735
RN  - 0 (DNA Probes)
RN  - 0 (Heterochromatin)
SB  - IM
MH  - Adult
MH  - Aneuploidy
MH  - Cell Nucleus/genetics
MH  - Centromere/genetics
MH  - Chromosome Aberrations/genetics/physiopathology
MH  - Chromosome Breakage/genetics
MH  - Chromosome Disorders
MH  - *Chromosome Segregation
MH  - Color
MH  - DNA Probes
MH  - Diploidy
MH  - Heterochromatin/genetics
MH  - Heterozygote
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Lymphocytes/cytology
MH  - Male
MH  - Meiosis/*genetics
MH  - Mosaicism/genetics
MH  - Spermatozoa/metabolism/*pathology
MH  - Translocation, Genetic/*genetics
MH  - X Chromosome/*genetics
MH  - Y Chromosome/*genetics
EDAT- 2001/04/18 10:00
MHDA- 2001/05/18 10:01
CRDT- 2001/04/18 10:00
PHST- 2001/04/18 10:00 [pubmed]
PHST- 2001/05/18 10:01 [medline]
PHST- 2001/04/18 10:00 [entrez]
AID - 56870 [pii]
AID - 10.1159/000056870 [doi]
PST - ppublish
SO  - Cytogenet Cell Genet. 2001;92(1-2):63-8. doi: 10.1159/000056870.