scholarly journals Cytogenetic Study in Patients with Abnormalities of Genital System

2021 ◽  
Vol 09 (10) ◽  
Author(s):  
Shabana Borate ◽  
Author(s):  
F. Al-Bagdadi ◽  
D. Hoyt ◽  
P. Karns ◽  
G. Martin ◽  
M. Memon ◽  
...  

The most frequently occuring abnormality of the male genital system in mammals is the failure of one or both testes to descend into the scrotum. The reasons for abdominal or inguinal retention of testes could be anatomic malformation, faulty development or hormone imbalance.Cryptorchidism has been associated with either greatly reduced or absent spermatogenesis (Kaueakami et al, 1984), and being a source of neoplasia. According to Stick (1980), germinal carcinoma cells have been believed to be the cause of teratomas in equine cryptorchid testicles. Neoplasia has been reported in descended testes of unilateral cryptorchid patients (Martin et al, 1981).No distinction has been made in relating the problem of cryptorchid testes to inguinal or abdominal retention. The purpose of this study is to record the morphological differences between inguinal and abdominal cryptorchid testes as an aid in diagnosis and prognosis.


JMS SKIMS ◽  
2020 ◽  
Vol 23 (2) ◽  
Author(s):  
Faisal R Guru ◽  
Nisar Ahmad Syed ◽  
Shumail Bashir ◽  
Sanudev Sadanandan Vp ◽  
Hashim Kunju Ismail ◽  
...  

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.


Genetics ◽  
1936 ◽  
Vol 21 (6) ◽  
pp. 840-840 ◽  
Author(s):  
M M Rhoades

2020 ◽  
Vol 13 (1) ◽  
pp. 9-14
Author(s):  
Golamreza Bahoush ◽  
Maryam Vafapour ◽  
Roxana Kariminejad

About 2–5% of acute lymphoblastic leukemia (ALL) cases in pediatric patients are infants with an unfavorable prognosis because of high relapse probability. Early detection of the disease is, therefore, very important. Despite the fact that leukemia in twins occurs rarely, more attention has been paid to it in genetic studies. In the present study, through cytogenetic testing, a special case of concordant ALL in monozygotic twins was presented with different outcomes. In spite of an acceptable initial consequence to medical treatment in twins, in another brother (Twin B), early relapse was observed. In the cytogenetic study, both twins expressed t (4; 11) (q21; q23) while twin A expressed t (2; 7) (p10; q10). No cases have previously reported this mutation. Whether this translocation has a protective role for leukemia with mixed-lineage leukemia (MLL) gene rearrangement is still unclear. The difference in the translocation identified in the identical twins is also subject to further investigations.


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