PMID- 22538551
OWN - NLM
STAT- MEDLINE
DCOM- 20130124
LR  - 20211021
IS  - 1573-7330 (Electronic)
IS  - 1058-0468 (Print)
IS  - 1058-0468 (Linking)
VI  - 29
IP  - 7
DP  - 2012 Jul
TI  - Normal sperm in a 2;2 homologous male translocation carrier.
PG  - 665-8
LID - 10.1007/s10815-012-9770-6 [doi]
AB  - PURPOSE: Carriers of balanced structural chromosomal abnormalities are 
      phenotypically normal but are at high risk of infertility. Translocations usually 
      occur between two non-homologous chromosomes. When occur between homologous 
      chromosomes, an extremely rare event, generally involve acrocentric chromosomes. 
      We present an infertile male referred for genetic analysis with a pure balanced 
      homologous 2;2 translocation and normal sperm in the ejaculate. METHODS: 
      Conventional cytogenetic and fluorescence in situ hybridization (FISH) were used 
      in karyotype and sperm analysis, respectively. RESULTS: Male's karyotype revealed 
      a pure balanced translocation involving homologous chromosomes 2: 
      46,XY,t(2;2)(p23;q21.2). Sperm analysis by FISH revealed the presence of 15.8 % 
      of normal and 84.2 % of abnormal spermatozoa for chromosome 2. CONCLUSIONS: This 
      is the first report of confined gonadal mosaicism in a pure homologous 
      non-acrocentric chromosome translocation carrier. Preimplantation genetic 
      diagnosis for chromosome 2 should be offered as a reproductive option.
FAU - Almeida, Carolina
AU  - Almeida C
AD  - Department of Genetics, Faculty of Medicine, University of Porto, Alameda Prof. 
      Hernani Monteiro, 4200-319, Porto, Portugal. carola@med.up.pt
FAU - Doria, Sofia
AU  - Doria S
FAU - Moreira, Maria
AU  - Moreira M
FAU - Pinto, Joel
AU  - Pinto J
FAU - Barros, Alberto
AU  - Barros A
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20120427
PL  - Netherlands
TA  - J Assist Reprod Genet
JT  - Journal of assisted reproduction and genetics
JID - 9206495
SB  - IM
MH  - Adult
MH  - Chromosomes, Human, Pair 2/*genetics
MH  - Female
MH  - Humans
MH  - Infertility, Male/*genetics
MH  - Karyotype
MH  - Male
MH  - Pregnancy
MH  - Pregnancy Complications/genetics
MH  - Preimplantation Diagnosis
MH  - Spermatogenesis/genetics
MH  - Spermatozoa/*physiology
MH  - *Translocation, Genetic
PMC - PMC3401250
EDAT- 2012/04/28 06:00
MHDA- 2013/01/25 06:00
PMCR- 2013/07/01
CRDT- 2012/04/28 06:00
PHST- 2011/12/14 00:00 [received]
PHST- 2012/04/09 00:00 [accepted]
PHST- 2012/04/28 06:00 [entrez]
PHST- 2012/04/28 06:00 [pubmed]
PHST- 2013/01/25 06:00 [medline]
PHST- 2013/07/01 00:00 [pmc-release]
AID - 9770 [pii]
AID - 10.1007/s10815-012-9770-6 [doi]
PST - ppublish
SO  - J Assist Reprod Genet. 2012 Jul;29(7):665-8. doi: 10.1007/s10815-012-9770-6. Epub 
      2012 Apr 27.