Numerical chromosome abnormalities in the spermatozoa of the fathers of children with trisomy 21 of paternal origin: generalised tendency to meiotic non-disjunction

2001 ◽  
Vol 108 (2) ◽  
pp. 134-139 ◽  
Author(s):  
Sérgio Soares ◽  
Cristina Templado ◽  
Joan Blanco ◽  
Josep Egozcue ◽  
Francesca Vidal
2015 ◽  
Vol 32 (3) ◽  
pp. 171-173
Author(s):  
Saequa Habib ◽  
Sultana Gulshana Banu ◽  
SM Shahedul Islam ◽  
Choudhury Ali Kawser

The chance of two chromosome abnormalities occurring in one conceptus is rare. Here we report two cases of double aneuploidy with karyotype 48,XYY,+21 and 48,XXY,+21.The diagnosis was confirmed by cytogenetic analysis using peripheral blood followed by Giemsa banding technique. Clinically both the children had most of the phenotypic features of Trisomy 21. However phenotypic features of XYY were not present but the child with XXY had undescended right testis .The purpose of this communication is to report such rare disorders discovered as the result of the evaluation for Trisomy 21.J Bangladesh Coll Phys Surg 2014; 32: 171-173


2020 ◽  
Vol 59 (4) ◽  
pp. 610-612
Author(s):  
Chih-Ping Chen ◽  
Wan-Chun Huang ◽  
Schu-Rern Chern ◽  
Shin-Wen Chen ◽  
Fang-Tzu Wu ◽  
...  

2005 ◽  
Vol 53 (3) ◽  
pp. 371-373 ◽  
Author(s):  
Marina Machatkova ◽  
Martina Brouckova ◽  
Milada Matejckova ◽  
Alice Krebsova ◽  
Karl Sperling ◽  
...  

Study of parental/meiotic origin of free trisomy 21 in nuclear families from Russia (70 cases), Ukraine (32 cases), and 22 from Germany revealed maternal nondisjunction in 77.3% (Germany), 93.8% (Ukraine), and 91.4% (Russia), paternal origin in 13.6%, 6.2%, and 8.6%, respectively. Maternal meiosis I errors were found in 84.4% (Ukraine), 77.1% (Russia), paternal origin in 3.1% (Ukraine), 2.9% (Russia). Maternal meiosis II errors occurred in 9.4% and 14.3% and paternal in 3.1% and 5.7% in Ukraine and Russia, respectively. No significant differences were found in maternal/paternal origin among Ukraine, Russia, Germany, and published data from other European regions.


2010 ◽  
Vol 3 (1) ◽  
pp. 4 ◽  
Author(s):  
Maj A Hultén ◽  
Suketu D Patel ◽  
Magnus Westgren ◽  
Nikos Papadogiannakis ◽  
Anna Jonsson ◽  
...  

Blood ◽  
1998 ◽  
Vol 91 (9) ◽  
pp. 3366-3371
Author(s):  
J.A. Pérez-Simón ◽  
R. Garcı́a-Sanz ◽  
M.D. Tabernero ◽  
J. Almeida ◽  
M. González ◽  
...  

Recent observations indicate that chromosome aberrations are important prognostic factors in patients with multiple myeloma (MM) treated with high-dose chemotherapy. Nevertheless, the inherent problems of conventional cytogenetics have hampered the systematic evaluation of this parameter in series of patients treated with conventional chemotherapy. Fluorescence in situ hybridization (FISH) analysis is an attractive alternative for evaluation of numerical chromosomal changes. In the present study, we analyze the relationship between aneuploidies of 15 different chromosomes assessed by FISH and prognosis in a series of 63 patients with MM treated with conventional chemotherapy. After a median follow-up of 61 months (range, 6 to 109), 49% of patients are still alive with a median survival of 33 months. The overall incidence of numerical chromosome abnormalities was 70%. This incidence significantly increased when seven or more chromosomes were analyzed (53 patients), reaching 81%. Trisomies of chromosomes 6, 9, and 17 were associated with prolonged survival (P = .033, P = .035, and P = .026, respectively); by contrast, overall survival (OS) was lower in cases with monosomy 13 (as assessed by deletion of Rb gene,P = .0012). From the clinical point of view, loss of Rb gene was associated with a poor performance status; low hemoglobin levels; high creatinine, C-reactive protein, and lactic dehydrogenase serum levels; high percentage of bone marrow plasma cells (BMPC); extensive bone lytic lesions; and advanced clinical stage. Other chromosome abnormalities such as trisomy of chromosome 9 and 17 were associated with good prognostic features including high hemoglobin levels, early clinical stage, β2microglobulin less than 6 μg/mL, and low percentage of BMPC. A multivariate analysis for OS showed that S-phase PC greater than 3% (P = .010) and β2microglobulin serum levels greater than 6 μg/mL (P = .024), together with monosomy of chromosome 13 (P = .031) and nontrisomy of chromosome 6 (P = .048) was the best combination of independent parameters for predicting survival in patients with MM. According to these results, chromosomal analysis is of great use in patients with MM at diagnosis to have a correct prognostic evaluation for clinical decision making.


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