Document Detail

Analyses of Gonadoblastoma Y (GBY)-locus and of Y Centromere in Turner Syndrome Patients.
MedLine Citation:
PMID:  25314650     Owner:  NLM     Status:  Publisher    
Background: Mosaicism with cytogenetically visible Y chromosome is found in 5-6% of Turner Syndrome (TS) patients. Additionally, occult Y-chromosome derived material is increasingly found in patients with monosomy X when using more sensitive molecular techniques. These TS patients are at risk of developing gonadoblastomas when the Y genes presumed to be involved in gonadoblastoma development (Gonadoblastoma-Y-locus; GBY) are present. Aim: To find occult Y-chromosome material in TS patients and to correlate the patient's phenotype to Y-chromosome material. Methods: We studied 60 TS-patients for presence of the Y chromosome with focus on the Gonadoblastoma Y-locus and its extension in Yp and Yq using sensitive Y centromere and Y gene deletion PCR assays. In addition, we evaluated their individual clinical and auxological characteristics. Results: We identified presence of the GBY-locus in 7 patients (11.7%) including 4 patients without evidence for a Y chromosome in their preceding standard karyotype analyses. Clinical and auxological characteristics were similar in GBY-positive and GBY-negative patients. Conclusions: Presence of the GBY locus in Turner patients with no indication of the Y chromosome in standard cytogenetic chromosome analysis can be revealed by sensitive molecular PCR assays screening for presence of the Y centromere and the GBY-candidate-genes in proximal Yp11 and Yq11, respectively.
S Knauer-Fischer; B Besikoglu; I Inta; C Kneppo; P H Vogt; M Bettendorf
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-10-14
Journal Detail:
Title:  Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association     Volume:  -     ISSN:  1439-3646     ISO Abbreviation:  Exp. Clin. Endocrinol. Diabetes     Publication Date:  2014 Oct 
Date Detail:
Created Date:  2014-10-14     Completed Date:  -     Revised Date:  2014-10-15    
Medline Journal Info:
Nlm Unique ID:  9505926     Medline TA:  Exp Clin Endocrinol Diabetes     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© Georg Thieme Verlag KG Stuttgart · New York.
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