Electronic letter
Analysis of the SRY gene in Turner syndrome patients with Y chromosomal material
Tohru Yorifujia, Junko Muroia, Mitsukazu Mamadaa, Ayumi Uematsua, Masahiko Kawaia, Toru Momoib, Masayuki Kajic, Chutaro Yamanakad, Tatsutoshi Nakahataaa Department
of Paediatrics, Kyoto University Hospital, 54 Shogoin Sakyo, Kyoto
606-8507, Japan, b Department of Paediatrics, Japanese Red Cross
Society, Wakayama Medical Centre, Japan, c Department of Endocrinology and Metabolism,
Shizuoka Children's Hospital, Japan, d Department
of Paediatrics, Tenri Hospital, Japan
Correspondence to: Dr Yorifuji, yorif@kuhp.kyoto-u.ac.jp
| The first 150 words of the full text of this article appear below. |
 |
Introduction |
|---|
EDITOR
Turner syndrome is one of the most common
chromosomal abnormality syndromes affecting 1 in 2500 liveborn females.
The syndrome is characterised by short stature, gonadal dysgenesis, congenital heart disease, renal anomalies, and a variety of somatic features including neck webbing, cubitus valgus, short neck, and widely
set nipples. Nearly half of the patients have a classical 45,X
karyotype while others have structurally abnormal sex chromosomes (for
example, 46,X,i(Xq)) or are mosaics with other cell lines with normal
(46,XX) or abnormal sex chromosomes.1-4 Among these, patients with Y chromosomal material require specific attention since
many of these 45,X/46,XY Turner syndrome patients develop gonadoblastoma or dysgerminoma later in life.5 6
Conventional chromosomal analysis indicates that 4-20% of patients
with Turner syndrome have a Y chromosome or its
derivatives.1-4 These figures could be even higher, since
the more sensitive PCR based analysis has shown that 15-60% of
cytogenetically 45,X females have Y chromosomal
material.7-9
CiteULike 
Complore 
Connotea 
Del.icio.us 
Digg 
Reddit 
Technorati What's this?
- Full Text
- Full Text (PDF)
- Submit a response
- Alert me when this article is cited
- Alert me when eLetters are posted
- Alert me if a correction is posted
Services
- Email this link to a friend
- Similar articles in this journal
- Similar articles in PubMed
- Add article to my folders
- Download to citation manager
- Request Permissions
Citing Articles
Google Scholar
PubMed
- PubMed Citation
- Articles by Yorifuji, T.
- Articles by Nakahata, T.
- Pubmed/NCBI databases
Compound via MeSHSubstance via MeSHGenetics Home ReferenceMedline Plus Health Information Turner Syndrome
Topic Collections
Bookmark with
Register for free content
The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.
Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.
