CORE
🇺🇦
make metadata, not war
Services
Services overview
Explore all CORE services
Access to raw data
API
Dataset
FastSync
Content discovery
Recommender
Discovery
OAI identifiers
OAI Resolver
Managing content
Dashboard
Bespoke contracts
Consultancy services
Support us
Support us
Membership
Sponsorship
Community governance
Advisory Board
Board of supporters
Research network
About
About us
Our mission
Team
Blog
FAQs
Contact us
A Rare Case of a Male with 45, XO, SRY+, ZFY+ with Short Stature and Mild Turner Stigmata
Authors
G. Ntali Sofocleous, C. Kouvidi, E. Tsagaraki, G. Dolianiti, M. Kaimara-Papathanasiou, A. Fryssira, H.
Publication date
1 January 2012
Publisher
Abstract
Background: Turner syndrome is hypothesized to result from haploinsufficiency of certain genes expressed from both sex chromosomes that escape X inactivation. Case Report: We present the rare case of a 4-year-old boy who was referred to the pediatric endocrinology unit for evaluation of slight growth delay. Results: Standard cytogenetic analysis showed a 45,XO karyotype. Molecular studies disclosed the presence of an intact SRY homeobox region and the ZFY region sited on the Y short arm. Other Y chromosome sequences which are normally found on the short arm of chromosome Y (p) were absent and their exact location on a different chromosome remained unclear. Subsequently, FISH (fluorescent in situ hybridization) analysis failed to detect any Y sequences, while haplotype analysis indicated that the present X chromosome was of paternal origin. Conclusion: Phenotype-genotype correlation studies were consistent with a male patient presenting with short stature and some of the Turner's syndrome stigmata. The consequences for the patients with this chromosomal abnormality and treatment with recombinant growth hormone are also discussed. Copyright © 2012 S. Karger AG, Basel
Similar works
Full text
Available Versions
Pergamos : Unified Institutional Repository / Digital Library Platform of the National and Kapodistrian University of Athens
See this paper in CORE
Go to the repository landing page
Download from data provider
oai:lib.uoa.gr:uoadl:3090845
Last time updated on 10/02/2023