scholarly journals Mosaic Turner Syndrome Presenting with a 46,XY Karyotype

2019 ◽  
Vol 2019 ◽  
pp. 1-3
Author(s):  
Melody Rasouli ◽  
Katherine McDaniel ◽  
Michael Awadalla ◽  
Karine Chung
Keyword(s):  
Turner Syndrome ◽  
Fish Analysis ◽  
Male To Female

Although Turner syndrome is most commonly associated with a 45,X genotype, other mosaic genotypes are present in approximately half of all cases. We describe a case of Turner syndrome with a 46,XY genotype by conventional 5-cell karyotype who was subsequently found to have a mosaic genotype of 18% 45,X and 82% 46,XY by 50-cell FISH analysis. Individuals with a mosaic 45,X/46,XY genotype have a variety of phenotypic presentations ranging from male to female which are not correlated with the percentage of mosaicism. Our case represents an extreme example where the genotype is predominately 46,XY and the phenotype typical of Turner syndrome.

scholarly journals A Turner syndrome case associated with dic(Y;22)

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Rie Kawamura ◽  
Hidehito Inagaki ◽  
Midori Yamada ◽  
Fumihiko Suzuki ◽  
Yuki Naru ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Loss Of Heterozygosity ◽  
Sex Chromosomes ◽  
Chromosome 22 ◽  
Fish Analysis ◽  
Mosaic Pattern ◽  
Case Presentation ◽  
Snp Microarray ◽  
Female Case ◽  
Pseudoautosomal Regions

Abstract Background Constitutional telomeric associations are very rare events and the mechanism underlying their development is not well understood. Case presentation We here describe a female case of Turner syndrome with a 45,X,add(22)(p11.2)[25]/45,X[5]. We reconfirmed this karyotype by FISH analysis as 45,X,dic(Y;22)(p11.3;p11.2)[28]/45,X[2].ish dic(Y;22)(SRY+,DYZ1+). A possible mechanism underlying this mosaicism was a loss of dic(Y;22) followed by a monosomy rescue of chromosome 22. However, SNP microarray analysis revealed no loss of heterozygosity (LOH) in chromosome 22, although a mosaic pattern of LOH was clearly detectable at the pseudoautosomal regions of the sex chromosomes. Conclusions Our results suggest that the separation of the dicentric chromosome at the junction resulted in a loss of chromosome Y without a loss of chromosome 22, leading to this patient’s unique mosaicism. Although telomere signals were not detected by FISH at the junction, it is likely that the original dic(Y;22) chromosome was generated by unstable telomeric associations. We propose a novel “pulled apart” mechanism as the process underlying this mosaicism.

Added value of buccal cell FISH analysis in the diagnosis and management of Turner syndrome

2020 ◽  
Vol 35 (10) ◽  
pp. 2391-2398 ◽  
Author(s):  
A Graff ◽  
B Donadille ◽  
H Morel ◽  
M C Villy ◽  
N Bourcigaux ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Blood Lymphocyte ◽  
Added Value ◽  
Buccal Cell ◽  
National Database ◽  
Invasive Technique ◽  
Fish Analysis ◽  
Registration Number ◽  
Competing Interest ◽  
X Cells

Abstract STUDY QUESTION Is there an added diagnosis value of buccal cell FISH analysis compared with blood lymphocyte chromosomal investigations in patients with Turner syndrome (TS)? SUMMARY ANSWER Buccal cell FISH analysis, a non-invasive technique, modified the chromosomal results obtained with the blood karyotype in 17 patients (12%) of our cohort. WHAT IS KNOWN ALREADY Few studies have evaluated buccal cell FISH analysis and compared them with blood karyotype in patients with TS. STUDY DESIGN, SIZE, DURATION A prospective, monocentric cohort study was conducted in a rare diseases centre (CMERC) between July 2017 and August 2019. PARTICIPANTS/MATERIALS, SETTING, METHODS In total, 142 adult patients with TS, and at least 5% 45,X cells in a previous blood karyotype, were recruited. All the patients’ files were included in the CEMARA database. This national database has been declared to the French data protection agency (CNIL approval number 1187326). In compliance with French law, consent regarding non-opposition to collect and use the data was obtained from each patient. A FISH analysis on a buccal smear was performed. MAIN RESULTS AND THE ROLE OF CHANCE The percentage of 45,X cells was identical between the two tissues in only 32.4% of cases. The discrepancy was higher than 41% for 12% of the cohort. The percentage of 45,X cells was higher in blood in 53 (37.3%) patients, and higher in buccal cells in 43 (30.3%) of cases. In 17 (12%) cases, the blood karyotype had to be reconsidered in regard to the buccal cell analysis. LIMITATIONS, REASONS FOR CAUTION It would have been interesting to evaluate karyotypes in cells from other tissues such as cells from skin biopsy or from the urinary tract and even from blood vessels or gonads in case of surgery and to compare them with each patient’s phenotype. However, most of the time, these tissues are not available. WIDER IMPLICATIONS OF THE FINDINGS Although blood lymphocyte karyotype remains the gold standard for the diagnosis of TS, buccal cell FISH analysis is an efficient tool to evaluate the global chromosomal constitution in these patients, thus allowing them to have better care and follow-up. For instance, identifying a Y chromosome can prevent the occurrence of a gonadoblastoma, as gonadectomy should be discussed. On the other hand, finding normal XX cells in a patient with a previous diagnosis of homogenous 45,X TS, may be psychologically helpful and relevant for gynaecological care. STUDY FUNDING/COMPETING INTEREST(S) No specific funding was sought for the study. The authors declare no competing interests. TRIAL REGISTRATION NUMBER N/A

Non-24-hour sleep-wake syndrome in a 38-year-old sighted male-to-female transsexual

2011 ◽  
Vol 44 (06) ◽  
Author(s):  
BT Wollweber ◽  
M Kluge ◽  
A Steiger
Keyword(s):  
Male To Female

Immunophenotyping and cytogenetic profile of children with acute lymphoblastic leukemia: A study from a tertiary care center from Kashmir.

JMS SKIMS ◽  
2020 ◽  
Vol 23 (2) ◽  
Author(s):  
Faisal R Guru ◽  
Nisar Ahmad Syed ◽  
Shumail Bashir ◽  
Sanudev Sadanandan Vp ◽  
Hashim Kunju Ismail ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
Cytogenetic Study ◽  
Lymphoblastic Leukemia ◽  
Tertiary Care ◽  
Medical Science ◽  
Fish Analysis ◽  
Jammu And Kashmir ◽  
Mll Gene ◽  
Cytogenetic Profile ◽  
Study Participants

Background The complete cytogenetic and immunophenotyping data in children suffering from acute lymphoblastic leukemia (ALL) in Jammu and Kashmir is scarce. To bridge this knowledge gap the present study proposes to evaluate the immunophenotype and cytogenetic profile of pediatric ALL patients treated in our hospital. Material and methods This hospital-based observational study was conducted on 180 pediatric patients aged between 1  to 18 years who had visited the Paediatric unit of the  Department of Medical Oncology at Sher-I -Kashmir Institute of Medical Science, Srinagar ,Jammu and Kashmir between the January 2015 to December 2019. Result Among the study participants, 57.8% were male and 42.2% were female with a mean age of 9.24 years and median of 8 Years. Among the participants, 57.2% were below 10 years of age and 42.8% were above 10years of age. CNS disease was reported in 7.8%  of the study participants.  63.3% patients  had a TLC count of less than 20000. Immunophenotyping data revealed pre-B ALL in 77.8% of children. Cytogenetic study was conducted on 153 patients among them 74.4% had a normal karyotype, 7.2% s had hyperdiploidy and 3.3% had hypodiploidy. The FISH analysis showed that 23.3% of study participants were positive for the TEL-AML study, 11.1% were positive for BCR-ABL analysis and 4.4% of participants were positive for MLL gene analysis. The overall survival in the study population was 78.9% among the study participants. Only the MLL gene rearrangement analysis showed a statistically significant correlation with the survival analysis (P<0.5). Conclusion In summary, the present study reported the complete cytogenetic and immunophenotyping profile of the children suffering from acute lymphoblastic leukemia in Jammu and Kashmir.

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