PMID- 16585123
OWN - NLM
STAT- MEDLINE
DCOM- 20060925
LR  - 20091119
IS  - 0268-1161 (Print)
IS  - 0268-1161 (Linking)
VI  - 21
IP  - 8
DP  - 2006 Aug
TI  - Chromosome segregation in an infertile man carrying a unique pericentric 
      inversion, inv(21)(p12q22.3), analysed using fluorescence in situ hybridization 
      on sperm nuclei: significance for clinical genetics. A case report.
PG  - 2052-6
AB  - We report the case of a 40-year-old patient referred to our centre after 3 years 
      of infertility. Karyotyping with the aid of fluorescence in situ hybridization 
      (FISH) analysis showed a unique pericentric inversion of chromosome 
      21:46,XY,inv(21)(p12q22.3). This type of intrachromosomal structural 
      rearrangement can lead to chromosome imbalance in offspring by producing 
      unbalanced gametes if an odd number of crossover events occur within the inverted 
      segment. Therefore, partial trisomy/monosomy with clinical consequences can be 
      observed in the progeny of carriers. Semen samples from the inversion carrier 
      were analysed by FISH using a combination of probes [a subtelomeric 21q probe and 
      a locus-specific Down's syndrome critical region (DSCR) probe] to evaluate the 
      proportion of recombinant chromosomes. Sperm-FISH analysis of 3400 spermatozoa 
      revealed a 67.4% rate of balanced chromosomes (normal or inverted). The 
      frequencies of recombinant chromosomes with duplication of the long arm and 
      deletion of the short arm, and vice versa, were 11.2 and 21.4%, respectively. The 
      risk for the couple of conceiving a child with an unbalanced chromosome 21 is 
      estimated to be around 32%. This case study shows the utility of sperm-FISH 
      analysis in the genetic counselling of a pericentric inversion in a male carrier 
      to assess the frequency of recombinant chromosomes and therefore evaluate the 
      probability of having a normal conception.
FAU - Malan, V
AU  - Malan V
AD  - Service d'Histologie-Embryologie et Cytogenetique, Biologie de la Reproduction, 
      Hopital Jean Verdier(AP-HP), UFR-SMBH, Bondy, France.
FAU - Pipiras, E
AU  - Pipiras E
FAU - Sifer, C
AU  - Sifer C
FAU - Kanafani, S
AU  - Kanafani S
FAU - Cedrin-Durnerin, I
AU  - Cedrin-Durnerin I
FAU - Martin-Pont, B
AU  - Martin-Pont B
FAU - Hugues, J N
AU  - Hugues JN
FAU - Wolf, J P
AU  - Wolf JP
FAU - Benzacken, B
AU  - Benzacken B
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20060403
PL  - England
TA  - Hum Reprod
JT  - Human reproduction (Oxford, England)
JID - 8701199
SB  - IM
CIN - Hum Reprod. 2007 Apr;22(4):1192. PMID: 17178744
MH  - Adult
MH  - *Chromosome Inversion
MH  - Chromosomes, Human, Pair 21/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infertility, Male/*genetics
MH  - Male
MH  - Spermatozoa/ultrastructure
EDAT- 2006/04/06 09:00
MHDA- 2006/09/26 09:00
CRDT- 2006/04/06 09:00
PHST- 2006/04/06 09:00 [pubmed]
PHST- 2006/09/26 09:00 [medline]
PHST- 2006/04/06 09:00 [entrez]
AID - del090 [pii]
AID - 10.1093/humrep/del090 [doi]
PST - ppublish
SO  - Hum Reprod. 2006 Aug;21(8):2052-6. doi: 10.1093/humrep/del090. Epub 2006 Apr 3.