PMID- 25073991
OWN - NLM
STAT- MEDLINE
DCOM- 20140924
LR  - 20140730
IS  - 0970-258X (Print)
IS  - 0970-258X (Linking)
VI  - 26
IP  - 6
DP  - 2013 Nov-Dec
TI  - Juvenile ankylosing spondylitis in Turner syndrome.
PG  - 338-9
AB  - Juvenile ankylosing spondylitis (JAS) is a chronic autoimmune disorder which 
      causes considerable morbidity when left untreated; it occurs predominantly in 
      men. We describe an Asian Indian woman who had JAS with phenotypic features of 
      Turner syndrome (TS) and was found to be a mosaic for 45, X/46, X, psu idic (X) 
      (p11) by karyotyping and fluorescence in situ hybridization (FISH) studies of 
      peripheral blood. The absence of Y chromosome material was confirmed by FISH. 
      Haplo-insufficiency of the X chromosome can predispose to autoimmunity. To the 
      best of our knowledge, this is the first report of JAS in association with mosaic 
      Turner syndrome. This case highlights the possible effects of gene dosage in 
      development of an autoimmune disease.
CI  - Copyright 2013, NMJI.
FAU - Sandhya, P
AU  - Sandhya P
AD  - Christian Medical College and Hospital, Vellore 632004, Tamil Nadu, India - 
      Department of Clinical Immunology and Rheumatology.
FAU - Danda, Debashish
AU  - Danda D
AD  - Christian Medical College and Hospital, Vellore 632004, Tamil Nadu, India - 
      Department of Clinical Immunology and Rheumatology.
FAU - Danda, Sumita
AU  - Danda S
AD  - Christian Medical College and Hospital, Vellore 632004, Tamil Nadu, India - 
      Department of Clinical Genetics.
FAU - Srivastava, Vivi M
AU  - Srivastava VM
AD  - Christian Medical College and Hospital, Vellore 632004, Tamil Nadu, India - 
      Department of Cytogenetics.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - India
TA  - Natl Med J India
JT  - The National medical journal of India
JID - 8809315
SB  - IM
MH  - Female
MH  - Gene Dosage
MH  - Humans
MH  - Karyotyping
MH  - Mosaicism
MH  - Phenotype
MH  - Spondylitis, Ankylosing/complications/*genetics
MH  - Turner Syndrome/complications/*genetics
MH  - Young Adult
EDAT- 2014/07/31 06:00
MHDA- 2014/09/25 06:00
CRDT- 2014/07/31 06:00
PHST- 2014/07/31 06:00 [entrez]
PHST- 2014/07/31 06:00 [pubmed]
PHST- 2014/09/25 06:00 [medline]
PST - ppublish
SO  - Natl Med J India. 2013 Nov-Dec;26(6):338-9.