scholarly journals A Rare De Novo Robertsonian Translocation t(21q; 21q) in an Iranian Child With Down Syndrome: A Case Report

2020 ◽  
Author(s):  
Ali Nikfar ◽  
Mojdeh Mansouri ◽  
Gita Fatemi Abhari
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Robertsonian Translocation ◽  
De Novo ◽  
Genetic Disorder ◽  
Female Child ◽  
Medical Sciences ◽  
Nasal Bridge ◽  
Flat Nasal Bridge ◽  
Iranian Child

Down syndrome or trisomy 21 is the most common genetic disorder with a prevalence of 1 in 700 live-born infants. It is characterized by the intellectual disability of varying range, developmental delay, distinctive facial features and various physical abnormalities. The most frequent clinical features include hypotonia, short stature, short neck, upward slanting eyes, flat nasal bridge, bulging tongue, small ears and a single palmar crease of the hands. Mainly there are three cytogenetic forms of Down syndrome including free trisomy 21, mosaicism and Robertsonian translocation. We describe the case of a 1-year-old Iranian female child who presented to our genetic counseling center with intellectual and physical disabilities. The most common features of Down syndrome were present. The cytogenetic analysis confirmed the diagnosis, with detection of the Robertsonian translocation t(21q; 21q). The patient's parents were found to be both phenotypically and cytogenetically normal, so the identified Robertsonian translocation t(21q; 21q) probably have arisen de novo. © 2019 Tehran University of Medical Sciences. All rights reserved. Acta Med Iran 2019;57(8):522-524.

Acquired Chromosome Rearrangements, Including Fine Interstitial Deletions, in a Patient with Down Syndrome and Monoblastic Leukemia

PEDIATRICS ◽  
1984 ◽  
Vol 74 (6) ◽  
pp. 1029-1033
Author(s):  
Shinichi Misawa ◽  
Joseph R. Testa ◽  
Lewis C. Strauss ◽  
Richard D. Leavitt ◽  
Curt I. Civin
Keyword(s):  
Down Syndrome ◽  
Acute Leukemia ◽  
Trisomy 21 ◽  
Female Child ◽  
Chromosome Rearrangements ◽  
Leukemic Cells ◽  
Structural Rearrangements ◽  
Time Analysis ◽  
Acute Monoblastic Leukemia ◽  
Cytogenetic Studies

A female child with Down syndrome who developed acute monoblastic leukemia is reported. Anemia associated with milk leukopenia was first recognized when the patient was 14 months old. Acute monoblastic leukemia was diagnosed 1 year later; cytogenetic studies were performed on circulating leukemic cells at this time. Analysis of elongated, finely banded chromosomes revealed three structural rearrangements, including two rather subtle interstitial deletions, in addition to trisomy 21 which was representative of the patient's constitutional karyotype. The karyotype of the leukemic cells was 47,XX,+21,t(3;18)(p23;q11.2), del(7)(q31.1q31.3), del(9)(p22p24 or p21p23). The patient received no cytostatic chemotherapy and died 4 months after the diagnosis of acute leukemia was made.

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.

Tetrasomy 21 due to a de novo Robertsonian translocation t(14;21) and an additional free trisomy 21

2001 ◽  
Vol 60 (1) ◽  
pp. 83-85 ◽  
Author(s):  
T Liehr ◽  
V Beensen ◽  
H Starke ◽  
R Hauschild ◽  
E Hempell ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Robertsonian Translocation ◽  
De Novo

De Novo COL7A1 mutation in a patient with trisomy 21: coexistence of dystrophic epidermolysis bullosa and Down syndrome

2012 ◽  
Vol 51 (9) ◽  
pp. 1078-1081
Author(s):  
Javiera A. Catalán ◽  
Fernando A. Rodríguez ◽  
María J. Yubero ◽  
Francis Palisson ◽  
María J. Gana ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Epidermolysis Bullosa ◽  
Trisomy 21 ◽  
De Novo ◽  
Dystrophic Epidermolysis Bullosa

scholarly journals FREQUENCY OF CLINICAL FEATURES AND CYTOGENETIC DEFECTS IN DOWN SYNDROME DIAGNOSED AT AFIP

2021 ◽  
Vol 71 (Suppl-1) ◽  
pp. S28-31
Author(s):  
Saira Irum ◽  
Helen Mary Robert ◽  
Asad Mahmood ◽  
Rafia Mahmood ◽  
Ayesha Khurshid ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Clinical Features ◽  
Trisomy 21 ◽  
Armed Forces ◽  
Cross Sectional Study ◽  
Banding Technique ◽  
Nasal Bridge ◽  
Cross Sectional ◽  
Cytogenetic Abnormalities ◽  
Conventional Cytogenetic Analysis

Objective: To determine the frequency of clinical features and cytogenetic abnormalities in patients of down syndrome and correlation of cytogenetic abnormalities with clinical features. Study Design: Cross sectional study. Place and Duration of Study: Department of Haematology, Armed Forces Institute of Pathology, Rawalpindi, from Feb 2017 to Feb 2018. Methodology: Total 163 patients with clinical suspicion of Down syndrome were selected by non-probability convenient sampling and diagnosis was confirmed by conventional cytogenetic analysis using Giemsa trypsin banding technique. Clinical features were assessed and frequency of different cytogenetic abnormalities were noted. Results: Out of total 163 patients, 96 (59%) were male and 67 (41%) were female. Median age of the patients was 11 months. Trisomy 21 was detected in 158 (96.9%), Robertsonian translocation in 4 (2.4%) and mosaicism in 01 (0.6%) patient. The predominant clinical features observed were slaunted with eyes, epicanthic folds, depressed nasal bridge and protruding tongue. Conclusion: Trisomy 21 is the most common cytogenetic abnormality observed in patients of down syndrome.

Down Syndrome from a Neurodevelopmental Perspective

2016 ◽  
Author(s):  
Hana D’Souza ◽  
Jamie Edgin ◽  
Annette Karmiloff-Smith
Keyword(s):  
Down Syndrome ◽  
Individual Differences ◽  
Trisomy 21 ◽  
Genetic Disorder ◽  
Developmental Time ◽  
Receptive Vocabulary ◽  
Chromosome 21 ◽  
Typically Developing ◽  
Altered Expression ◽  
Wide Range

This is an advance summary of a forthcoming article in the Oxford Research Encyclopedia of Psychology. Please check back later for the full article. Down syndrome (DS; trisomy 21) is the most common genetic disorder associated with intellectual disability. It occurs in one out of every 700 to 1,000 live births. DS is caused by trisomy of human chromosome 21, which results in the altered expression of over 300 genes. This neurodevelopmental syndrome is characterized by distinctive facial dysmorphology and an uneven cognitive phenotype including relative strengths and weaknesses. Relative strengths include visual processing, receptive vocabulary, and social-emotional functioning (though performance in these domains generally falls below the level expected for typically developing individuals). Relative weaknesses include verbal working memory, expressive language, and motor ability. However, the phenotype of individuals with DS is far from homogeneous, and a wide range of individual differences is present at every level of description. On the genetic level, the trisomy can occur through different mechanisms at distinct developmental time points, and the expression of trisomy 21 may be modulated by different genes across individuals. On the level of the brain, individual differences in brain structure and/or function correlate with variation in cognition and behavior, including communication skills. Large individual differences can also be observed on the cognitive level. For example, while some toddlers with DS are nonverbal, others reach expressive vocabulary levels close to those of typically developing children. A wide range of individual differences has also been reported in other areas, including the motor domain, sleep, parent-child interaction, and medical and psychiatric comorbidities. In order to understand a neurodevelopmental syndrome such as DS, it is crucial to consider individual variations at multiple levels of description and the interactions between them over developmental time. A more complex, dynamic view that goes beyond a description of DS as a homogenous group is thus required.

scholarly journals PERMAINAN LEMPAR DADU SEBAGAI MEDIA PEMBELAJARAN BINA DIRI KESEHATAN ANAK DOWN SYNDROMEE

1930 ◽  
Vol 7 (02) ◽  
pp. 77-83
Author(s):  
Yovita Eka Ratna Kumala ◽  
Wafi Nur Muslihatun
Keyword(s):  
Down Syndrome ◽  
Success Rate ◽  
Visual Processing ◽  
Trisomy 21 ◽  
Genetic Disorder ◽  
Original Image ◽  
Children With Down Syndrome ◽  
Almost All

Down syndrome is a genetic disorder known as trisomy 21 and is most common. Down syndrome children have visual processing skills are better, but almost all children who suffer from this disorder can not read, write and take care of herself. This study aims to prove whether Roll dice game method can improve the ability of children with Down syndrome do Bina Yourself Healthy at SLB Mardi Mulya Kretek, Bantul, Yogyakarta. This study is a game of throwing dice experiment with the design of one group pretest-posttest. The instruments used were throwing dice game instruction with the words, cartoons and images and test viewing capabilities and perform the instructions mentioned on the dice. Data were analyzed descriptively calculate the percentage of children's success. The results showed toss the dice with the instructions of the original image (photo) provides the capability to mention children and do the instruction with the highest success rate (95.23%) compared to the instruction by writing (14.28%) and cartoons (66.67%).

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.

scholarly journals A terhességet megelőzően alkalmazott hosszabb távú orális fogamzásgátlás mint a magzati 21-es triszómia lehetséges kockázatcsökkentő tényezője idős anyai életkorban vállalt terhességben

2018 ◽  
Vol 159 (28) ◽  
pp. 1146-1152
Author(s):  
Dániel Horányi ◽  
Lilla Éva Babay ◽  
Balázs Győrffy ◽  
Gyula Richárd Nagy
Keyword(s):  
Down Syndrome ◽  
Chromosomal Abnormality ◽  
Trisomy 21 ◽  
Maternal Age ◽  
Genetic Disorder ◽  
Advanced Maternal Age ◽  
Oral Contraception ◽  
Summary Report ◽  
Meiotic Nondisjunction

Abstract: Down syndrome is the most common autosomal chromosomal abnormality. According to the classical interpretation, it is the result of meiotic nondisjunction. Its occurrence is more common in advanced maternal age. Despite intensive research, pathophysiology of this genetic disorder is not fully understood. According to recent studies, a different kind of mechanism may be found in the background of trisomy 21 than was previously considered. Based on the ovarian mosaicism model, the cause of trisomy 21 (or any common trisomy) is a segregation error of a chromosome in premeiotic mitosis. The cell entering meiosis will be an oocyte with preexisting trisomy, where its (so-called “secondary”) nondisjunction is essential. Maturation of the trisomic oocytes appears to fall behind the disomic oocytes, resulting in their relative accumulation in the ovaries as time progresses. The ratio of trisomic/disomic cells becomes less favorable in maternal maturity. If ovulation is inhibited – although the number of oocytes will continue to decline due to apoptosis – it can be assumed that the trisomic/disomic oocyte ratio remains more favorable with the progression of age. In our summary report, presenting and updating our previous data, we would like to propose that – according to ovarian mosaicism model – long-term oral contraception in the anamnesis may be beneficial in pregnancies with advanced maternal age. Orv Hetil. 2018; 159(28): 1146–1152.

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