Clinical implications of the detection of Y-chromosome mosaicism in Turner's syndrome: report of 3 cases

2008 ◽  
Vol 90 (4) ◽  
pp. 1197.e17-1197.e20 ◽  
Author(s):  
Bianca Bianco ◽  
Mônica Vannucci Nunes Lipay ◽  
Alexis Dourado Guedes ◽  
Ieda T.N. Verreschi
Keyword(s):  
Y Chromosome ◽  
Clinical Implications ◽  
Turner's Syndrome ◽  
Turner’S Syndrome ◽  
Chromosome Mosaicism ◽  
Syndrome Report

scholarly journals Isochromosome for long arm of Y chromosome in patient with Turner's syndrome and sex chromosome mosaicism (45,X-46,XYqi).

1969 ◽  
Vol 6 (4) ◽  
pp. 422-425 ◽  
Author(s):  
M A Ferguson-Smith ◽  
E Boyd ◽  
M E Ferguson-Smith ◽  
J G Pritchard ◽  
A F Yusuf ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Sex Chromosome ◽  
Turner's Syndrome ◽  
Turner’S Syndrome ◽  
Chromosome Mosaicism

Transumbilical laparoendoscopic single-site gonadectomy for Turner's syndrome with Y-chromosome mosaicism

2012 ◽  
Vol 8 (4) ◽  
pp. e39-e42 ◽  
Author(s):  
Kentaro Mizuno ◽  
Yoshiyuki Kojima ◽  
Hidenori Nishio ◽  
Keiichi Tozawa ◽  
Haruo Mizuno ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Single Site ◽  
Turner's Syndrome ◽  
Turner’S Syndrome ◽  
Chromosome Mosaicism ◽  
Laparoendoscopic Single Site

scholarly journals Hidden Y Chromosome Mosaicism in 48 Egyptian Patients with Turner’s Syndrome

2013 ◽  
Vol 2013 ◽  
pp. 1-5
Author(s):  
Mervat M. El-Eshmawy ◽  
Sohier Yahia ◽  
Faeza A. El-Dahtory ◽  
Sahar Hamed ◽  
El Hadidy M. El Hadidy ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Molecular Analysis ◽  
Dna Analysis ◽  
Turner's Syndrome ◽  
Turner’S Syndrome ◽  
Sry Gene ◽  
Chromosome Mosaicism ◽  
Conventional Cytogenetic Analysis ◽  
Egyptian Patients ◽  
Chromosome Material

Background. The presence of Y chromosome material in Turner’s syndrome (TS) patients is a risk factor for the development of gonadoblastoma. Although conventional cytogenetic analysis is the definitive diagnosis of TS, low level Y chromosome mosaicism may be missed. Molecular analysis has demonstrated a higher proportion of mosaicism, but there is controversy regarding the prevalence of Y chromosome-derived material in those patients. Aim and Methods. This study was conducted to investigate the prevalence of hidden Y chromosome mosaicism in 48 TS Egyptian patients using polymerase chain reaction (PCR) for molecular DNA analysis of SRY gene and compare our results with those in the literature. Results. None of TS patients had a cytogenetically obvious Y chromosome; Y chromosome material was detected only at molecular analysis. SRY gene was found in 9 TS patients (18.75%) with the classical 45,X karyotype, whereas all other patients were SRY negative. Conclusion. Cytogenetically undetected Y chromosome mosaicism is common in TS patients; these data reinforce the need for adequate diagnosis of Y chromosome material in those patients. Molecular screening for Y chromosome-derived DNA should be routinely carried out in all TS patients.

Thoracoabdominal Ectopia Cordis With Mosaic Turner's Syndrome: Report of a Case

PEDIATRICS ◽  
1978 ◽  
Vol 62 (2) ◽  
pp. 218-221
Author(s):  
Arthur Garson ◽  
Edith P. Hawkins ◽  
Charles E. Mullins ◽  
Sam B. Edwards ◽  
David C. Sabiston ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Turner's Syndrome ◽  
Turner’S Syndrome ◽  
Ectopia Cordis ◽  
Syndrome Report

A child was treated for thoracoabdominal ectopia cordis and an associated chromosomal defect. Contrary to most cases in which death is due to the externally situated heart and abdominal viscera, this patient died from congenital heart disease.

Y-chromosome identification by PCR and gonadal histopathology in Turner's syndrome without overt Y-mosaicism

1999 ◽  
Vol 50 (1) ◽  
pp. 19-26 ◽  
Author(s):  
Judite R. T. Mendes ◽  
Maria Wany L. Strufaldi ◽  
Rosana Delcelo ◽  
Regina C. M. S. Moisés ◽  
José Gilberto Vieira ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Turner's Syndrome ◽  
Chromosome Identification ◽  
Turner’S Syndrome

Laparoscopic removal of gonads in a Turner's syndrome mosaic female patient with isodicentric Y chromosome

2000 ◽  
Vol 7 (11) ◽  
pp. 425-426 ◽  
Author(s):  
Gaku Kawabata ◽  
Michiaki Sato ◽  
Yasuyuki Okamoto ◽  
Yoshihito Mizuno ◽  
Tomotoshi Akematsu ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Female Patient ◽  
Turner's Syndrome ◽  
Turner’S Syndrome ◽  
Laparoscopic Removal
Sign in / Sign up

Export Citation Format

Share Document