PMID- 20646694
OWN - NLM
STAT- MEDLINE
DCOM- 20110121
LR  - 20101220
IS  - 1556-5653 (Electronic)
IS  - 0015-0282 (Linking)
VI  - 95
IP  - 1
DP  - 2011 Jan
TI  - Sperm fluorescence in situ hybridization analysis reveals normal sperm cells for 
      14;14 homologous male Robertsonian translocation carrier.
PG  - 289.e5-9
LID - 10.1016/j.fertnstert.2010.05.033 [doi]
AB  - OBJECTIVE: To report the presence of normal sperm cells for chromosome 14 in a 
      homologous 14;14 Robertsonian translocation carrier. DESIGN: Case report. 
      SETTING: In vitro fertilization clinic and genetics laboratory in a private 
      hospital. PATIENT(S): Infertile couple referred for IVF. INTERVENTION(S): 
      Conventional cytogenetic and fluorescence in situ hybridization (FISH) techniques 
      were used in karyotype and sperm FISH analysis. Three IVF treatments were 
      performed, two of which included preimplantation genetic diagnosis (PGD). MAIN 
      OUTCOME MEASURE(S): Cytogenetic analysis revealed pure 45,XY,t(14;14)(q10;q10) 
      karyotype. Sperm FISH analysis for chromosome 14 revealed 13% normal sperm cells 
      in the sperm sample. RESULT(S): Sperm FISH analysis revealed 13% normal sperm 
      cells for chromosome 14 in the homologous 14;14 Robertsonian translocation 
      carrier. The couple underwent two IVF cycles together with PGD. In the first 
      trial there was no suitable embryo for transfer. In the second trial one normal 
      blastocyst was transferred on day 6. However, pregnancy was not established in 
      this second PGD cycle. CONCLUSION(S): To our knowledge, this is the first sperm 
      FISH study revealing the presence of normal sperm in the ejaculate of a pure 
      homologous translocation carrier. The PGD study performed for this couple is also 
      unique in the literature.
CI  - Copyright (c) 2011 American Society for Reproductive Medicine. Published by 
      Elsevier Inc. All rights reserved.
FAU - Cinar, Cigdem
AU  - Cinar C
AD  - Reproductive Genetics Laboratory, In Vitro Fertilization Unit, Istanbul Memorial 
      Hospital, Istanbul, Turkey. cigdemcinar78@hotmail.com
FAU - Beyazyurek, Cagri
AU  - Beyazyurek C
FAU - Ekmekci, Cumhur Gokhan
AU  - Ekmekci CG
FAU - Aslan, Cilem
AU  - Aslan C
FAU - Kahraman, Semra
AU  - Kahraman S
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20100620
PL  - United States
TA  - Fertil Steril
JT  - Fertility and sterility
JID - 0372772
SB  - IM
MH  - Adult
MH  - *Chromosomes, Human, Pair 14
MH  - Embryo Transfer
MH  - Female
MH  - *Fertilization in Vitro
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Middle Aged
MH  - Oligospermia/*genetics
MH  - Pregnancy
MH  - Pregnancy Outcome
MH  - Sperm Motility
MH  - Spermatozoa/*cytology/physiology
MH  - Translocation, Genetic/*genetics
EDAT- 2010/07/22 06:00
MHDA- 2011/01/22 06:00
CRDT- 2010/07/22 06:00
PHST- 2010/03/29 00:00 [received]
PHST- 2010/04/23 00:00 [revised]
PHST- 2010/05/10 00:00 [accepted]
PHST- 2010/07/22 06:00 [entrez]
PHST- 2010/07/22 06:00 [pubmed]
PHST- 2011/01/22 06:00 [medline]
AID - S0015-0282(10)00823-X [pii]
AID - 10.1016/j.fertnstert.2010.05.033 [doi]
PST - ppublish
SO  - Fertil Steril. 2011 Jan;95(1):289.e5-9. doi: 10.1016/j.fertnstert.2010.05.033. 
      Epub 2010 Jun 20.