PMID- 23441923
OWN - NLM
STAT- MEDLINE
DCOM- 20140218
LR  - 20130719
IS  - 1939-6376 (Electronic)
IS  - 1939-6368 (Linking)
VI  - 59
IP  - 4
DP  - 2013 Aug
TI  - Disruption of HDX gene in premature ovarian failure.
PG  - 218-22
LID - 10.3109/19396368.2013.769028 [doi]
AB  - We present a case of a 19-year-old phenotypically normal girl with premature 
      ovarian failure. Cytogenetic analysis using G banding and fluorescence in situ 
      hybridization (FISH) from cultured peripheral blood lymphocytes of the patient 
      and the family revealed a de novo X;15 translocation and the imbalance to be 
      46,X,t(X;15)(Xpter --> Xq21::15q11 --> 15qter;15pter --> 15q11::Xq21 --> Xqter). ish 
      (CEPX+, wep15+, ISNRPN+, PML+, D15S10+, wcp15-, SNRRN-, PML-)[20]. The X 
      chromosome inactivation (XCI) assay revealed a completely skewed XCI pattern in 
      which selective pressure favors an active maternal allele. The Affymetrix 2.7 M 
      cytogenetics whole-Genome array confirmed the chromosomal imbalance and 
      identified disruption of the HDX gene at Xq21, the translocation breakpoint.
FAU - Okten, Gulsen
AU  - Okten G
AD  - Faculty of Medicine, Department of Medical Biology, Ondokuz Mayis University, 
      Samsun, Turkey. sgunes@omu.edu.t
FAU - Gunes, Sezgin
AU  - Gunes S
FAU - Onat, Onur Emre
AU  - Onat OE
FAU - Tukun, Ajlan
AU  - Tukun A
FAU - Ozcelik, Tayfun
AU  - Ozcelik T
FAU - Kocak, Idris
AU  - Kocak I
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20130226
PL  - England
TA  - Syst Biol Reprod Med
JT  - Systems biology in reproductive medicine
JID - 101464963
SB  - IM
MH  - Adolescent
MH  - Chromosome Banding
MH  - *Chromosomes, Human, 13-15
MH  - *Chromosomes, Human, X
MH  - Female
MH  - Genes, Homeobox/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Primary Ovarian Insufficiency/*genetics
MH  - Translocation, Genetic
MH  - *X Chromosome Inactivation
MH  - Young Adult
EDAT- 2013/02/28 06:00
MHDA- 2014/02/19 06:00
CRDT- 2013/02/28 06:00
PHST- 2013/02/28 06:00 [entrez]
PHST- 2013/02/28 06:00 [pubmed]
PHST- 2014/02/19 06:00 [medline]
AID - 10.3109/19396368.2013.769028 [doi]
PST - ppublish
SO  - Syst Biol Reprod Med. 2013 Aug;59(4):218-22. doi: 10.3109/19396368.2013.769028. 
      Epub 2013 Feb 26.