PMID- 15513983
OWN - NLM
STAT- MEDLINE
DCOM- 20050531
LR  - 20111214
IS  - 0268-1161 (Print)
IS  - 0268-1161 (Linking)
VI  - 19
IP  - 12
DP  - 2004 Dec
TI  - A constitutional complex chromosome rearrangement involving meiotic arrest in an 
      azoospermic male: case report.
PG  - 2784-90
AB  - Complex chromosome rearrangements are rare aberrations that frequently lead to 
      reproductive failure and that may hinder assisted reproduction. A 25-year-old 
      azoospermic male was studied cytogenetically with synaptonemal complex analysis 
      of spermatocytes from a testicular biopsy and fluorescence in situ hybridization 
      (FISH) of lymphocytes. The spermatocytes showed a pentavalent plus a univalent 
      chromosome. Cell death occurred mainly at advanced pachytene stages. The sex 
      chromosomes were involved in the multiple, as shown by their typical axial 
      excrescences. Two autosomal pairs, including an acrocentric chromosome (15), were 
      also involved in the multiple. FISH allowed the definite identification of all 
      the involved chromosomes. An inverted chromosome 12 is translocated with most of 
      one long arm of chromosome 15, while the centromeric piece of this chromosome 15 
      is translocated with Yqh, forming a small marker chromosome t(15;Y). The 
      euchromatic part of the Y chromosome is joined to the remaining piece of 
      chromosome 12, forming a neo-Y chromosome. The patient shows azoospermia and a 
      normal phenotype. The disruption of spermatogenesis is hypothetically due to the 
      extent of asynaptic segments and to sex-body association during pachytene. This 
      CCR occurred 'de novo' during paternal spermatogenesis. Meiotic analysis and FISH 
      are valuable diagnostic tools in these cases.
FAU - Coco, R
AU  - Coco R
AD  - FECUNDITAS, Instituto de Medicina Reproductiva, Larrea 790, Buenos Aires, 
      Argentina.
FAU - Rahn, M I
AU  - Rahn MI
FAU - Estanga, P Garcia
AU  - Estanga PG
FAU - Antonioli, G
AU  - Antonioli G
FAU - Solari, A J
AU  - Solari AJ
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20041028
PL  - England
TA  - Hum Reprod
JT  - Human reproduction (Oxford, England)
JID - 8701199
RN  - 0 (Seminal Plasma Proteins)
SB  - IM
MH  - Adult
MH  - *Chromosome Aberrations
MH  - Cytogenetic Analysis
MH  - Gene Rearrangement
MH  - Genetic Loci
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Meiosis
MH  - Oligospermia/*genetics
MH  - Seminal Plasma Proteins/genetics
MH  - Sequence Deletion
MH  - Spermatocytes/pathology/physiology
MH  - Spermatogenesis/genetics
MH  - Synaptonemal Complex/genetics
EDAT- 2004/10/30 09:00
MHDA- 2005/06/01 09:00
CRDT- 2004/10/30 09:00
PHST- 2004/10/30 09:00 [pubmed]
PHST- 2005/06/01 09:00 [medline]
PHST- 2004/10/30 09:00 [entrez]
AID - deh506 [pii]
AID - 10.1093/humrep/deh506 [doi]
PST - ppublish
SO  - Hum Reprod. 2004 Dec;19(12):2784-90. doi: 10.1093/humrep/deh506. Epub 2004 Oct 
      28.