A chromosome 21-derived minute marker in a mosaic trisomy 21 background: Implications for risk assessments in marker chromosome cases

2004 ◽  
Vol 127A (2) ◽  
pp. 191-193 ◽  
Author(s):  
Eunice-Georgia G. Stefanou ◽  
Mark Crocker
Keyword(s):  
Trisomy 21 ◽  
Marker Chromosome ◽  
Chromosome 21 ◽  
Risk Assessments ◽  
Mosaic Trisomy

scholarly journals Cytogenetic Analysis of Down Syndrome

2019 ◽  
Vol 1 (1) ◽  
pp. 37-40
Author(s):  
G S Kadakol ◽  
R S Bulagouda ◽  
S V Patil ◽  
Ishwar Bagoji
Keyword(s):  
Down Syndrome ◽  
Genetic Disease ◽  
Genetic Risk ◽  
Cytogenetic Analysis ◽  
Trisomy 21 ◽  
Robertsonian Translocation ◽  
Common Type ◽  
Chromosome 21 ◽  
Banding Technique ◽  
Mosaic Trisomy

Objective: Down syndrome is a common genetic disease, diagnosed with congenital malformation/mental retardation. Down syndrome occurs in all races & economic levels. It is caused by third copy of chromosome 21, there are there forms of DS. Simple Trisomy 21, Translocation Trisomy and Mosaic Trisomy.  The aim of the study is to know cause of Down syndrome. Chromosomal analysis was carried out by G banding technique. Materials and Methods: 1 ml of peripheral blood samples were collected in Out Patient Department of pediatrics  and Cytogenetic analysis was performed Results: out of 28, 3 female cases, 2 male cases were Down syndrome, All the 5 cases were free trisomy 21, which is common type of Down syndrome; we have not identified Robertsonian translocation and mosaic type of DS. Conclusion: The present analysis shows that genetic risk factors are responsible for the incidence of Down syndrome.

RUNX1 DNA-binding mutations and RUNX1-PRDM16 cryptic fusions in BCR-ABL+ leukemias are frequently associated with secondary trisomy 21 and may contribute to clonal evolution and imatinib resistance

Blood ◽  
2008 ◽  
Vol 111 (7) ◽  
pp. 3735-3741 ◽  
Author(s):  
Catherine Roche-Lestienne ◽  
Lauréline Deluche ◽  
Sélim Corm ◽  
Isabelle Tigaud ◽  
Sami Joha ◽  
...  
Keyword(s):  
Dna Binding ◽  
High Frequency ◽  
Trisomy 21 ◽  
De Novo ◽  
Blast Crisis ◽  
Clonal Evolution ◽  
Chronic Phase ◽  
Chromosome 21 ◽  
Imatinib Resistance ◽  
Molecular Abnormalities

Abstract Acquired molecular abnormalities (mutations or chromosomal translocations) of the RUNX1 transcription factor gene are frequent in acute myeloblastic leukemias (AMLs) and in therapy-related myelodysplastic syndromes, but rarely in acute lymphoblastic leukemias (ALLs) and chronic myelogenous leukemias (CMLs). Among 18 BCR-ABL+ leukemias presenting acquired trisomy of chromosome 21, we report a high frequency (33%) of recurrent point mutations (4 in myeloid blast crisis [BC] CML and one in chronic phase CML) within the DNA-binding region of RUNX1. We did not found any mutation in de novo BCR-ABL+ ALLs or lymphoid BC CML. Emergence of the RUNX1 mutations was detected at diagnosis or before the acquisition of trisomy 21 during disease progression. In addition, we also report a high frequency of cryptic chromosomal RUNX1 translocation to a novel recently described gene partner, PRDM16 on chromosome 1p36, for 3 (21.4%) of 14 investigated patients: 2 myeloid BC CMLs and, for the first time, 1 therapy-related BCR-ABL+ ALL. Two patients presented both RUNX1 mutations and RUNX1-PRDM16 fusion. These events are associated with a short survival and support the concept of a cooperative effect of BCR-ABL with molecular RUNX1 abnormalities on the differentiation arrest phenotype observed during progression of CML and in BCR-ABL+ ALL.

Trisomy 21 and isodicentric chromosome 21 in Kostmann syndrome following treatment with G-CSF

2001 ◽  
Vol 126 (1) ◽  
pp. 78-80 ◽  
Author(s):  
Birgitte Roland ◽  
Richard C Woodman ◽  
Keith Jorgenson ◽  
Alfredo Pinto
Keyword(s):  
Trisomy 21 ◽  
Chromosome 21 ◽  
Kostmann Syndrome ◽  
Isodicentric Chromosome

Molecular Cytogenetic Classification of Down Syndrome and Screening of Somatic Aneuploidy in Mothers

2021 ◽  
pp. 1-9
Author(s):  
Sushil Kumar Jaiswal ◽  
Ashok Kumar ◽  
Amit Kumar Rai
Keyword(s):  
Down Syndrome ◽  
Peripheral Blood ◽  
Trisomy 21 ◽  
Health Management ◽  
Chromosome 21 ◽  
Robertsonian Translocations ◽  
Significant Difference ◽  
And Control

Down Syndrome (DS) caused by trisomy 21 results in various congenital and developmental complications in children. It is crucial to cytogenetically diagnose the DS cases early for their proper health management and to reduce the risk of further DS childbirths in mothers. In this study, we performed a cytogenetic analysis of 436 suspected DS cases using karyotyping and fluorescent in situ hybridization. We detected free trisomies (95.3%), robertsonian translocations (2.4%), isochromosomes (0.6%), and mosaics (1.2%). We observed a slightly higher incidence of DS childbirth in younger mothers compared to mothers with advanced age. We compared the somatic aneuploidy in peripheral blood of mothers having DS children (MDS) and control mothers (CM) to identify biomarkers for predicting the risk for DS childbirths. No significant difference was observed. After induced demethylation in peripheral blood cells, we did not observe a significant difference in the frequency of aneuploidy between MDS and CM. In conclusion, free trisomy 21 is the most common type of chromosomal abnormality in DS. A small number of DS cases have translocations and mosaicism of chromosome 21. Additionally, somatic aneuploidy in the peripheral blood from the mother is not an effective marker to predict DS childbirths.

Transient neonatal leukemoid reactions in mosaic trisomy 21

1984 ◽  
Vol 104 (2) ◽  
pp. 251-254 ◽  
Author(s):  
Nita L. Seibel ◽  
Amemaris Sommer ◽  
James Miser
Keyword(s):  
Trisomy 21 ◽  
Mosaic Trisomy

Chromosome 21, Trisomy 21, and Alzheimer’s Disease

1988 ◽  
pp. 89-94
Author(s):  
P.-M. Sinet ◽  
Z. Rahmani ◽  
J.-L. Blouin ◽  
A. Nicole ◽  
I. Ceballos ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Trisomy 21 ◽  
Chromosome 21

scholarly journals Gambaran Erupsi Gigi Permanen pada Anak Sindrom Down Usia 10-16 Tahun di Sekolah Luar Biasa Kabupaten Jember

2018 ◽  
Vol 8 (1) ◽  
pp. 8
Author(s):  
Loly Anastasya Sinaga ◽  
Dwi Kartika Apriyono ◽  
Masniari Novita
Keyword(s):  
Down Syndrome ◽  
Special Needs ◽  
Physical Characteristic ◽  
Trisomy 21 ◽  
Genetic Disorder ◽  
Extra Chromosome ◽  
Descriptive Study ◽  
Chromosome 21 ◽  
Permanent Teeth ◽  
Intellectual Abilities

Background: Down Syndrome is a genetic disorder that occurs because of chromosome 21 has three chromosome (trisomy 21). The extra chromosome changes the genetic balance, physical characteristic, intellectual abilities, and physiological body function. Tooth eruption in Down Syndrome children typically delayed in both the timing and sequence of eruption up to two or three years. Objective: To observe the permanent teeth eruption in Down syndrome children at age 10-16 years old, boys and girls in Special Needs School in Jember. Materials and Methods: This research was a descriptive study with 7 subjects. Each subject was examined then calculated teeth that had emerged or functionally eruption with articualting paper. Result and Conclusion:  Both permanent teeth that is still partially erupted tooth (emerged/ EM) and had erupted perfectly (functionally eruption/ FE) delayed in eruption in Down Syndrome boys and girls at age 10-16 years old.

scholarly journals Nuchal translucency: an ultrasound marker for fetal chromosomal abnormalities

2001 ◽  
Vol 119 (1) ◽  
pp. 19-23 ◽  
Author(s):  
Gregório Lorenzo Acácio ◽  
Ricardo Barini ◽  
Walter Pinto Júnior ◽  
Renato Luís Silveira Ximenes ◽  
Heverton Pettersen ◽  
...  
Keyword(s):  
Diagnostic Test ◽  
Gestational Age ◽  
Trisomy 21 ◽  
Chromosomal Abnormalities ◽  
Screening Method ◽  
Nuchal Translucency ◽  
Chromosome 21 ◽  
Likelihood Ratios ◽  
South American Population ◽  
Population Type

CONTEXT: The literature shows an association between several ultrasound markers and chromosome abnormality. Among these, measurement of nuchal translucency has been indicated as a screening method for aneuploidy. The trisomy of chromosome 21 has been most evaluated. OBJECTIVE: To define the best fixed cutoff point for nuchal translucency, with the assistance of the ROC curve, and its accuracy in screening all fetal aneuploidy and trisomy 21 in a South American population. TYPE OF STUDY: Validation of a diagnostic test. SETTING: This study was carried out at the State University of Campinas, Campinas, Brazil. PARTICIPANTS: 230 patients examined by ultrasound at two tertiary-level private centers, at 10 to 14 weeks of gestation. DIAGNOSTIC TEST: The participants consisted of all those patients who had undergone ultrasound imaging at 10 to 14 weeks of gestation to measure nuchal translucency and who had had the fetal or neonatal karyotype identified. MAIN MEASUREMENTS: Maternal age, gestational age, nuchal translucency measurement, fetal or neonatal karyotype. RESULTS: Prevalence of chromosomal defects -- 10%; mean age -- 35.8 years; mean gestational age -- 12 weeks and 2 days; nuchal translucency (NT) thickness -- 2.18 mm. The best balance between sensitivity and specificity were values that were equal to or higher than 2.5 mm for overall chromosomal abnormalities as well as for the isolated trisomy 21. The sensitivity for overall chromosomal abnormalities and trisomy 21 were 69.5% and 75%, respectively, and the positive likelihood ratios were 5.5 and 5.0, respectively. CONCLUSION: The measurement of nuchal translucency was found to be fairly accurate as an ultrasound marker for fetal abnormalities and measurements equal to or higher than 2.5 mm were the best fixed cutoff points.

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