Monochorionic-diamniotic twins discordant in gender from a naturally conceived pregnancy through postzygotic sex chromosome loss in a 47,XXY zygote

2008 ◽  
Vol 28 (8) ◽  
pp. 759-763 ◽  
Author(s):  
Nicolas H. Zech ◽  
Josef Wisser ◽  
Giancarlo Natalucci ◽  
Mariluce Riegel ◽  
Alessandra Baumer ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
Chromosome Loss

Sex chromosome loss may represent a disease-associated clonal population in chronic lymphocytic leukemia

2013 ◽  
Vol 53 (3) ◽  
pp. 240-247 ◽  
Author(s):  
Elise Chapiro ◽  
Ileana Antony-Debre ◽  
Nathalie Marchay ◽  
Christophe Parizot ◽  
Claude Lesty ◽  
...  
Keyword(s):  
Chronic Lymphocytic Leukemia ◽  
Sex Chromosome ◽  
Lymphocytic Leukemia ◽  
Chromosome Loss ◽  
Clonal Population

scholarly journals Interrogation of cancer gene dependencies reveals novel paralog interactions of autosome and sex chromosome encoded genes

2021 ◽  
Author(s):  
Anna Köferle ◽  
Andreas Schlattl ◽  
Alexandra Hörmann ◽  
Fiona Spreitzer ◽  
Alexandra M. Popa ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Therapeutic Strategy ◽  
Sex Chromosome ◽  
De Novo ◽  
Chromosome Loss ◽  
Potential Candidate ◽  
Loss Of Function ◽  
Male Patients ◽  
Tumour Cell Lines ◽  
Paralog Gene

Genetic networks are characterized by extensive buffering. During tumour evolution, disruption of these functional redundancies can create de novo vulnerabilities that are specific to cancer cells. In this regard, paralog genes are of particular interest, as the loss of one paralog gene can render tumour cells dependent on a remaining paralog. To systematically identify cancer-relevant paralog dependencies, we searched for candidate dependencies using CRISPR screens and publicly available loss-of-function datasets. Our analysis revealed >2,000 potential candidate dependencies, several of which were subsequently experimentally validated. We provide evidence that DNAJC15-DNAJC19, FAM50A-FAM50B and RPP25-RPP25L are novel cancer relevant paralog dependencies. Importantly, our analysis also revealed unexpected redundancies between sex chromosome genes. We show that chrX- and chrY- encoded paralogs, as exemplified by ZFX-ZFY, DDX3X-DDX3Y and EIF1AX-EIF1AY, are functionally linked so that tumour cell lines from male patients with Y-chromosome loss become exquisitely dependent on the chrX-encoded gene. We therefore propose genetic redundancies between chrX- and chrY- encoded paralogs as a general therapeutic strategy for human tumours that have lost the Y-chromosome.

Trisomy 7 and sex chromosome loss in human brain tissue

1989 ◽  
Vol 52 (3-4) ◽  
pp. 136-138 ◽  
Author(s):  
S. Heim ◽  
N. Mandahl ◽  
Y. Jin ◽  
S. Strömblad ◽  
E. Lindström ◽  
...  
Keyword(s):  
Human Brain ◽  
Brain Tissue ◽  
Sex Chromosome ◽  
Chromosome Loss ◽  
Human Brain Tissue ◽  
Trisomy 7

2.41 Clinical Significance of Sex Chromosome Loss in Chronic Lymphocytic Leukemia

2011 ◽  
Vol 11 ◽  
pp. S184-S185
Author(s):  
I. Antony-Debré ◽  
N. Marchay ◽  
C. Parizot ◽  
E. Chapiro ◽  
H.A. Cung ◽  
...  
Keyword(s):  
Chronic Lymphocytic Leukemia ◽  
Clinical Significance ◽  
Sex Chromosome ◽  
Lymphocytic Leukemia ◽  
Chromosome Loss

Sex chromosome loss and non-disjunction in women: Analysis of chromosomal segregation in binucleated lymphocytes

Chromosoma ◽  
1996 ◽  
Vol 104 (6) ◽  
pp. 461-467 ◽  
Author(s):  
Andrea Zijno ◽  
Paola Leopardi ◽  
Francesca Marcon ◽  
Riccardo Crebelli
Keyword(s):  
Sex Chromosome ◽  
Chromosome Loss ◽  
Chromosomal Segregation ◽  
Binucleated Lymphocytes

RADIATION INDUCED SEX CHROMOSOME LOSS AS AN INDICATOR OF THE OPTIMAL STAGE DURING SPERMATOGENESIS FOR THE INDUCTION OF COMPOUND CHROMOSOMES IN LUCILIA CUPRINA

1981 ◽  
Vol 23 (1) ◽  
pp. 101-109 ◽  
Author(s):  
R. H. Maddern
Keyword(s):  
Sex Chromosome ◽  
Lucilia Cuprina ◽  
Chromosome Loss ◽  
Pest Species ◽  
Radiation Induced

Radiation induced sex chromosome loss has been used to determine the optimal stage at which to irradiate developing male gonial cells in order to produce compound autosomes. In Lucilia it was found that the optimal stage for inducing sex chromosome loss was correlated with the stage at which the greatest number of radiation induced compound chromosomes was recovered. By analogy with Drosophila the data suggest that the 2 to 3 day old pupa is the earliest stage at which spermatocytes are produced in Lucilia. Using this method it should be possible to determine the optimal age at which to irradiate in order to produce compound chromosomes in other pest species where information relating spermatogenic development to age is limited.

scholarly journals Clinical Significance of Sex Chromosome Loss in Sex-Mismatched Bone Marrow Transplantations: A Potential Candidate for Predicting Adverse Prognosis

Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. 3471-3471
Author(s):  
Joon Hee Lee ◽  
Jong Do Seo ◽  
Dajeong Jeong ◽  
Jiwon Yun ◽  
Sang-A Kim ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Survival Analysis ◽  
Clinical Significance ◽  
Sex Chromosome ◽  
Mortality Rates ◽  
Physiological Age ◽  
Time Interval ◽  
Chromosome Loss ◽  
Potential Candidate ◽  
Kaplan Meier

Abstract Background: Sex chromosome loss (SCL) has long been deemed a physiological age-related phenomenon, but due to its increasingly common appearance in pathogenic settings, there has been renewed debate as to its clinical significance. In hematologic patients receiving sex-mismatched bone marrow transplantations (BMT), depending on the donor/patient sex combination, the appearance and/or disappearance of the Y chromosome can have various implications such as engraftment, relapse, or even donor cell leukemia. This diversity, especially when coupled with deletion/duplication of an X chromosome, can be extremely misleading when determining post-BMT chimerism and may even cause misdiagnosis. We investigated the incidence and clinical implications of SCL in patients who received sex-mismatched BMT. Methods: The present study includes 476 patients (262 females and 214 males) that underwent sex-mismatched BMT over a 10-year period (2005-2015) at Seoul National University Hospital. Retrospective review of electronic medical records was performed to obtain relevant clinical data. SCL was determined by X/Y Fluoresence in situ Hybridization (FISH) and its clinical significance was evaluated in conjunction with other available cytogenetic (karyotyping, FISH), molecular (short-tandem repeat (STR) analysis), and bone marrow (BM) aspiration/biopsy results. Correlation between clinical factors were analyzed via Kendall's rank correlation coefficients. Kaplan-Meier survival analysis was utilized to obtain and compare survival curves of the patients according to age, sex, recipient STR percentage, SCL percentage, and post-BMT time interval till appearance of SCL. Two types of survival was analyzed: the first being the survival from initiation of BMT, and the second being the survival from the onset of SCL. Results: From a total of 476 patients who received sex-mismatched BMT, 77 patients (16.2%) showed post-BMT SCL. Interestingly, the number of female recipients with SCL was significantly higher than males (67 vs 10), but the overall degree of SCL (%) was higher in male patients. Acute myeloid leukemia (AML) was the most common primary diagnoses in all patients, but the distribution of diagnoses was not different between sexes. Females had a lower average age compared to males (33.8 vs 50.9 years). Correlation analysis showed that SCL positively correlated with both STR and age, however, there were a few cases with discrepancies between the SCL percentage and recipient STR percentage. These discrepancies usually occurred at low SCL and STR percentages (<5%), and required clinical interpretation via co-reviews of other available cytogenetic and/or molecular results. According to Kaplan-Meier survival analysis, the mortality rates measured from both initiation of BMT and onset of SCL were all significantly higher in patients >32 years (p=0.003, Figure 1 a), males (p<0.001, Figure 1 b), recipient STR >8.25% (p<0.001, Figure 1 c), SCL >3.8% (p = 0.006, Figure 1 d), and time interval from BMT to onset of SCL ≤10.9 months (p = 0.002, Figure 1 e). Comprehensive analyses of X/Y FISH combined with aberrant FISH markers, G-banding, and BM blast counts confirmed both higher relapse and mortality rates in SCL patients. Conclusions: Vigilance is required when interpreting X/Y FISH results, especially when relatively low percentages (<5%) of SCL is present. In ambiguous cases, it is recommended to co-review cytogenetic and molecular results. Furthermore, based on the positive correlation of SCL with relapse and poor survival, we propose that SCL could have significant prognostic implications, and patients with SCL could be classified as high-risk and more carefully monitored in the post-BMT setting. Disclosures No relevant conflicts of interest to declare.

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