PMID- 20338563
OWN - NLM
STAT- MEDLINE
DCOM- 20100901
LR  - 20101118
IS  - 1556-5653 (Electronic)
IS  - 0015-0282 (Linking)
VI  - 94
IP  - 3
DP  - 2010 Aug
TI  - Molecular cytogenetic definition of a translocation t(X;15) associated with 
      premature ovarian failure.
PG  - 1097.e5-8
LID - 10.1016/j.fertnstert.2010.02.013 [doi]
AB  - OBJECTIVE: To characterize the breakpoints of a t(X;15) found in a woman with 
      premature ovarian failure (POF). DESIGN: Case report. SETTING: Molecular and 
      cytogenetics unit in a university-affiliated hospital. PATIENT(S): A 19-year-old 
      infertile woman presenting with a normal female phenotype but primary amenorrhea. 
      INTERVENTION(S): Molecular cytogenetic analyses and genetic counseling. MAIN 
      OUTCOME MEASURE(S): Translocation t(X;15) defined by fluorescence in situ 
      hybridization (FISH) and array comparative genomic hybridization (array CGH). 
      RESULT(S): Chromosome and FISH analysis revealed 46,XX, t(X;15)(Xq22.1;p11); the 
      active X was translocated and had been inherited from her mother. Detailed 
      molecular characterization by FISH showed that the NXF5 (nuclear RNA export 
      factor 5) gene was contained in the clone spanning the breakpoint on the X 
      chromosome. CONCLUSION(S): The NXF5 gene is an appealing candidate for POF 
      because it shows functional homology with the FMR1 (fragile X mental retardation 
      1) gene. Further analyses of its expression as well as mutation screening in 
      other POF patients will help to elucidate its role.
CI  - Copyright (c) 2010 American Society for Reproductive Medicine. Published by 
      Elsevier Inc. All rights reserved.
FAU - Bertini, Veronica
AU  - Bertini V
AD  - Cytogenetics and Molecular Genetics Unit, Children's Department, A.O.U. Pisana, 
      S. Chiara Hospital, Pisa, Italy.
FAU - Ghirri, Paolo
AU  - Ghirri P
FAU - Bicocchi, Maria Patrizia
AU  - Bicocchi MP
FAU - Simi, Paolo
AU  - Simi P
FAU - Valetto, Angelo
AU  - Valetto A
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20100324
PL  - United States
TA  - Fertil Steril
JT  - Fertility and sterility
JID - 0372772
SB  - IM
MH  - *Chromosomes, Human, Pair 15/genetics
MH  - *Chromosomes, Human, X/genetics
MH  - Cytogenetic Analysis
MH  - Female
MH  - Humans
MH  - Molecular Diagnostic Techniques
MH  - Primary Ovarian Insufficiency/diagnosis/*genetics
MH  - *Translocation, Genetic
MH  - X Chromosome Inactivation/genetics
MH  - Young Adult
EDAT- 2010/03/27 06:00
MHDA- 2010/09/02 06:00
CRDT- 2010/03/27 06:00
PHST- 2009/12/04 00:00 [received]
PHST- 2010/02/02 00:00 [revised]
PHST- 2010/02/04 00:00 [accepted]
PHST- 2010/03/27 06:00 [entrez]
PHST- 2010/03/27 06:00 [pubmed]
PHST- 2010/09/02 06:00 [medline]
AID - S0015-0282(10)00263-3 [pii]
AID - 10.1016/j.fertnstert.2010.02.013 [doi]
PST - ppublish
SO  - Fertil Steril. 2010 Aug;94(3):1097.e5-8. doi: 10.1016/j.fertnstert.2010.02.013. 
      Epub 2010 Mar 24.