Search results for: trisomy 21

Authors: Ruolan Zhou

Abstract:

Trisomy of human chromosome 21 is the primary cause of Down Syndrome (DS), and this genetic disease has significantly burdened families and countries, causing great controversy. To address this problem, the research takes an approach in exploring the relationship between genetic abnormality and this disease's symptoms, adopting several techniques, including data analysis and enrichment analysis. It also explores open-source websites, such as NCBI, DAVID, SOURCE, STRING, as well as UCSC, to complement its result. This research has analyzed the variety of genes on human chromosome 21 with simple coding, and by using analysis, it has specified the protein-coding genes, their function, and their location. By using enrichment analysis, this paper has found the abundance of keratin production-related coding-proteins on human chromosome 21. By adopting past researches, this research has attempted to disclose the relationship between trisomy of human chromosome 21 and keratin production abnormality, which might be the reason for common diseases in patients with Down Syndrome. At last, by addressing the advantage and insufficiency of this research, the discussion has provided specific directions for future research.

Keywords: Down Syndrome, protein production, genome, enrichment analysis

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Authors: S. H. Atef

Abstract:

Background: The most common chromosomal abnormalities identified at birth are aneuploidies of chromosome 21, 18, 13, X and Y. Prenatal diagnosis of fetal aneuploidies is routinely done by traditional cytogenetic culture, a major drawback of this technique is the long period of time required to reach a diagnosis. In this study, we evaluated the QF-PCR as a rapid technique for prenatal diagnosis of common aneuploidies. Method:This work was carried out on Sixty amniotic fluid samples taken from patients with one or more of the following indications: Advanced maternal age (3 case), abnormal biochemical markers (6 cases), abnormal ultrasound (12 cases) or previous history of abnormal child (39 cases).Each sample was tested by QF-PCR and traditional cytogenetic. Aneuploidy screenings were performed amplifying four STRs on chromosomes 21, 18, 13, two pseudoautosomal,one X linked, as well as the AMXY and SRY; markers were distributed in two multiplex QFPCR assays (S1 and S2) in order to reduce the risk of sample mishandling. Results: All the QF-PCR results were successful, while there was two culture failures, only one of them was repeated. No discrepancy was seen between the results of both techniques. Fifty six samples showed normal patterns, three sample showed trisomy 21, successfully detected by both techniques and one sample showed normal pattern by QF-PCR but could not be compared to the cytogenetics due to culture failure, the pregnancy outcome of this case was a normal baby. Conclusion: Our study concluded that QF-PCR is a reliable technique for prenatal diagnosis of the common chromosomal aneuploidies. It has the advantages over the cytogenetic culture of being faster with the results appearing within 24-48 hours, simpler, doesn't need a highly qualified staff, less prone to failure and more cost effective.

Keywords: QF-PCR, traditional cytogenetic fetal aneuploidies, trisomy 21, prenatal diagnosis

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Authors: Bremmy Laksono, Riksa Parikrama, Nur A. Rosyada, Willyanti Soewondo, Dadang S. H. Effendi, Eriska Rianti, Arlette S. Setiawan, Ine Sasmita, Risti S. Primanti, Erna Kurnikasari, Yunia Sribudiani

Abstract:

Down syndrome (DS) is a chromosomal abnormality characterised by complete 21 chromosome trisomy (classical or non-disjunction), or partial 21 chromosome trisomy (mosaicism), or chromosome rearrangement involving chromosome 21 (translocation). This study was carried out to describe the frequency of DS patients in a research institution in the city of Bandung, Indonesia. This descriptive study also provides a picture of the residential location and surrounding area of their dwellings. This study involved people with DS in various age whose chromosome were evaluated by conventional karyotyping method and FISH. Data were collected from 60 patients with DS from a total 150 patients during the period of September 2015 to August 2016 who were referred to Cell Culture and Cytogenetics Laboratory, Faculty of Medicine Universitas Padjadjaran, Indonesia. Results showed that the most common type of DS was non-disjunction (93%), followed by mosaicism (5%), no patient with translocation DS (0%), and a very rare type of tetrasomy 21 (2%). There were 39 males (65%) and 21 females (35%) of DS patient. Most of them live in suburban area beyond Bandung city (55%) while the rest live inside urban area of Bandung city (45%). They live mostly in dense area of greater Bandung area (65%) and only a few live in mid-density area (25%) and the least live in sparse populated area (10%). Their houses are mostly located in residential estate area (55%), nearby industrial area (37%), and around agricultural area (8%). Based on the study, it could be concluded that non-disjunction DS is the most common type. DS patients referred to the laboratory mostly came from dense residential zone in suburban area outside Bandung city. The low number of DS patients referred to the laboratory for chromosome analysis was the highlight to improve health service for people with genetic disorder. This study offered several information regarding area of DS patients’ residence and the condition of neighbourhood in Bandung city where they live as well.

Keywords: chromosome, descriptive, Down syndrome, prevalence

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Authors: Mohit Kumar, Beklashwar Salona, Shiv Murti, Mukesh Singh

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We report here a case of five-months old male baby, born as second child of non-consanguineous parents with no considerable history of genetic abnormality which was referred to our cytogenetic laboratory for chromosomal analysis. Physical dysmorphic facial features including mongoloid face, cleft palate, simian crease, and developmental delay were observed. We present this case with unique balanced autosomal translocation of t(3;10)(p21;p13). The risk of phenotypic abnormalities based on de novo balanced translocation was estimated to be 7%. The association of balanced chromosomal rearrangement with Down syndrome features such as multiple congenital anomalies, facial dysmorphism and congenital heart anomalies are very rare in a 5-months old male child. Trisomy-21 is not uncommon in chromosomal abnormality with the birth defect and balanced translocations are frequently observed in patients with secondary infertility or recurrent spontaneous abortion (RSA). Two ml heparinized peripheral blood cells cultured in RPMI-1640 for 72 hours supplemented with 20% fetal bovine serum, phytohemagglutinin (PHA), and antibiotics were used for chromosomal analysis. A total 30 metaphases images were captured using Olympus-BX51 microscope and analyzed using Bio-view karyotyping software through GTG-banding (G bands by trypsin and Giemsa) according to International System for Human Cytogenetic Nomenclature 2016. The results showed balanced translocation between short arm of chromosome # 3 and short arm of chromosome # 10. The karyotype of the child was found to be 46,XY,t(3;10)(p21; p13). Chromosomal abnormalities are one of the major causes of birth defect in new born babies. Also, balanced translocations are frequently observed in patients with secondary infertility or recurrent spontaneous abortion. The index case presented with dysmorphic facial features and had a balanced translocation 46,XY,t(3;10)(p21;p13). This translocation with break points at (p21; p13) has not been reported in the literature in a child with facial dysmorphism. To the best of our knowledge, this is the first report of novel balanced translocation t(3;10) with break points in a child with dysmorphic features. We found balanced chromosomal translocation instead of any trisomy or unbalanced aberrations along with some phenotypic abnormalities. Therefore, we suggest that such novel balanced translocation with abnormal phenotype should be reported in order to enable the pathologist, pediatrician, and gynecologist to have a better insight into the intricacies of chromosomal abnormalities and their associated phenotypic features. We hypothesized that dysmorphic features as seen in this case may be the result of change in the pattern of genes located at the breakpoint area in balanced translocations or may be due to deletion or mutation of genes located on the p-arm of chromosome # 3 and p-arm of chromosome # 10.

Keywords: balanced translocation, karyotyping, phenotypic abnormalities, facial dimorphisms

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Authors: Archana S., Usha Rani G., Anand Balakrishnan, Sanjana R., Solomon F., Vijayalakshmi J.

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Background: There is evidence that male factors contribute to the infertility of up to 50% of couples, who are evaluated and treated for infertility using advanced assisted reproductive technologies. Genetic abnormalities, including sperm chromosome aneuploidy as well as structural aberrations, are one of the major causes of male infertility. Recent advances in technology expedite the evaluation of sperm aneuploidy. The purpose of the study was to de-termine the prevalence of sperm aneuploidy in infertile males and the degree of association between DNA fragmentation and sperm aneuploidy. Methods: In this study, 75 infertile men were included, and they were divided into four abnormal groups (Oligospermia, Terato-spermia, Asthenospermia and Oligoasthenoteratospermia (OAT)). Men with children who were normozoospermia served as the control group. The Fluorescence in situ hybridization (FISH) method was used to test for sperm aneuploidy, and the Sperm Chromatin Dispersion Assay (SCDA) was used to measure the fragmentation of sperm DNA. Spearman's correla-tion coefficient was used to evaluate the relationship between sperm aneuploidy and sperm DNA fragmentation along with age. P < 0.05 was regarded as significant. Results: 75 partic-ipants' ages varied from 28 to 48 years old (35.5±5.1). The percentage of spermatozoa bear-ing X and Y was determined to be statistically significant (p-value < 0.05) and was found to be 48.92% and 51.18% of CEP X X 1 – nucish (CEP XX 1) [100] and CEP Y X 1 – nucish (CEP Y X 1) [100]. When compared to the rate of DNA fragmentation, it was discovered that infertile males had a greater frequency of sperm aneuploidy. Asthenospermia and OAT groups in sex chromosomal aneuploidy were significantly correlated (p<0.05). Conclusion: Sperm FISH and SCDA assay results showed increased sperm aneuploidy frequency, and DNA fragmentation index in infertile men compared with fertile men. There is a significant relationship observed between sperm aneuploidy and DNA fragmentation in OAT patients. When evaluating male variables and idiopathic infertility, the sperm FISH screening method can be used as a valuable diagnostic tool.

Keywords: ale infertility, dfi (dna fragmentation assay) (scd-sperm chromatin dispersion).art (artificial reproductive technology), trisomy, aneuploidy, fish (fluorescence in-situ hybridization), oat (oligoasthoteratospermia)

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Authors: Miriam Colleran, Barbara Sheehy-Skeffington

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Background: To explore if there are unique features in the palliative care needs of patients with intellectual disability that may impact on planning for resource and service provision for them. Aim: The purpose of this practice review is to assess the indications for, numbers of and outcomes of care for adults with intellectual disabilities referred to a specialist palliative care service over a twoyear period. Service utilization aspects considered included the frequency of home visits by a specialist palliative care doctor or clinical nurse specialist and the number of hospice admissions that occurred for the patients. Method: A retrospective review was carried out of persons 18 years and older with intellectual disabilities referred to a specialist palliative care service over a 5-year period from 30.11.3018 to 29.11.2023. A manual review was carried out of the register using key terms, namely, known residential care and community dwelling places of service providers for persons with intellectual disabilities in the area and registered diagnoses in addition to the patients known to the clinicians who had intellectual disabilities. Results: 25 referrals were made to the specialist palliative care service of 23 persons with intellectual disabilities during that time. However, this may be an underestimate. 15 women and 8 men were referred with an age range of 19 to 86 years of age. The majority had a diagnosis of Down’s syndrome or Trisomy 21. 5 patients referred did not have home visits from the specialist palliative care team. A range of 2 to 48 phone calls per person occurred by the specialist palliative care team regarding this cohort of patients. The outcomes for the patients included discharge and death. The majority of patients that died, did so in the community. One person however died in hospital. Another person died in a hospice out of area. Conclusion: Providing specialist palliative care for adults with intellectual disabilities is an important element of palliative care. The dominance of the community as the place of death for these patients and the limited number of patients dying in either hospice or hospital are noteworthy. Further research is necessary and education to inform, support, and empower specialist palliative care professionals in optimizing palliative and end-of-life care for persons with intellectual disabilities and to inform service development and provision.

Keywords: about intellectual disability, palliative care

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Authors: Amanda Aliende da Matta

Abstract:

This communication presents an aspect of phenomenon selection in an applied hermeneutic phenomenology study on care and vulnerability: the need to consider it as a situated universal. For that, we will first present the study and its methodology. Secondly, we will expose the need to understand phenomena as situation-defined, incorporating feminist thought. In an informatics class for 14 year olds, we explained the exercise: students have to make a 5 slide presentation about a topic of their choice. A does it on streetwear, B on Cristiano Ronaldo, C on Marvel, but J did it on Down Syndrome. Introducing it to the class, J explains the physical and cognitive differences caused by trisomy; when asked to explain it further, he says: "they are angels, teacher," and shows us a poster on his cellphone that says: if you laugh at a different child he will laugh with you because his innocence outweighs your ignorance. The anecdote shows, better than any theoretical explanation, something that some vulnerable people have; something beautiful and special but difficult to define. Let's call this something caring. The research has the main objective of accounting for the experience of caregiving in vulnerability, and it will be carried out with Applied Hermeneutic Phenomenology (AHP). The method's objective is to investigate the lived human experience in its pre-reflexive dimension to know its meaning structures. Contrary to other research methods, AHP does not produce theory about a specific context but seeks the meaning of the lived experience, in its characteristic of human experience. However, it is necessary that we understand care as defined in a concrete situation. We cannot start the research with an a priori definitive concept of care, or we would fall into the mistake of closing ourselves to only what we already know, as explained by Levinas. We incorporate, then, the notion of situated universals. Loyal to phenomenology, the definition of the phenomenon should start with an investigation of the word's etymology: the word cura, in its etymological root, means care. And care comes from the Latin word cogitātus/cōgĭto, which means "to pursue something in mind" and "to consider thoroughly." The verb cōgĭto, meanwhile, is composed of co- (altogether) and agitare (to deal with or think committedly about something, to concern oneself with) / ăgĭto (to set in motion, to move). Care, therefore, has in its origin a meditation on something, a concern about something, a verb that has a sense of action and movement. To care is to act out of concern for something/someone. This etymology, though, is not the final definition of the phenomenon, but only its skeleton. It needs to be embodied in the concrete situation to become a possible lived experience. And that means that the lived experience descriptions (LEDs) should be selected by taking into consideration how and if care was engendered in that concrete experience. Defining the phenomenon has to take into consideration situated knowledge.

Keywords: applied hermeneutic phenomenology, care ethics, hermeneutics, phenomenology, situated universalism

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