- For each paper, you need to have at least one reference to a scientific source (other than wikipedia, a dictionary, your lab manual, etc.). For any information that comes from another source, you must include both in-text citations and a reference section will full reference information. See Appendix A of your lab manual (Scientific Writing and Communication) for information regarding scientific writing and referencing other scientific bodies of work.
Down Syndrome: A Primer.
The most common genetic disorder is “Trisomy 21,” also known as “Down Syndrome (DS),” occurring as often as 1 in 660 live births. The genetic basis for DS was discovered in 1959 when the smallest chromosome in humans showed dysfunction. Trisomy 21 occurs in three …show more content…
The knowing of these gene functions and their contribution for DS phenotype are fundamental for the understanding of the syndrome and for providing basis for the planning of therapeutic strategies to improve the quality of life of DS individuals. The first and most accepted hypothesis for DS phenotype is that the triple genes are “overexpressed” and the imbalance of genes on chromosome 21 is why there is molecular dysfunctions in DS. Higher levels of gene expression on chromosome 21 tissues are reported in several studies, where increased copy number do not always correspond with increased gene expression level or gene function. DS presents altered pattern of DNA methylation in genes in two or three copies with functional differences in gene expression. Studies show trisomy 21 results in altered expression of microRNAs (noncoding RNA involved in post-transcriptional gene regulation, possibly result in abnormal expression of specific proteins and contribute to the DS phenotype. Phenotypes vary, but dysfiguration of physical features and ability to learn are observed in all reliable diagnosis. Cytogenetic investigation of DS is how to establish a precise diagnosis, the karyotype analysis identifies cases of inheritance of the parents' karyotypes. To establish the risk of recurrence in future generations. Accurate estimation of recurrence depends on verification of the patient’s karyotype. Free trisomy 21 and mosaicism don’t …show more content…
Genetic counseling is important in guiding parents in care for children with DS. Individuals with DS experience delay in developmental steps. Counseling with speech, occupational, or physical therapy is recommended.
Down Syndrome: A Primer.
The most common genetic disorder is “Trisomy 21,” also known as “Down Syndrome (DS),” occurring as often as 1 in 660 live births. The genetic basis for DS was discovered in 1959 when the smallest chromosome in humans showed dysfunction. Trisomy 21 occurs in three …show more content…
The knowing of these gene functions and their contribution for DS phenotype are fundamental for the understanding of the syndrome and for providing basis for the planning of therapeutic strategies to improve the quality of life of DS individuals. The first and most accepted hypothesis for DS phenotype is that the triple genes are “overexpressed” and the imbalance of genes on chromosome 21 is why there is molecular dysfunctions in DS. Higher levels of gene expression on chromosome 21 tissues are reported in several studies, where increased copy number do not always correspond with increased gene expression level or gene function. DS presents altered pattern of DNA methylation in genes in two or three copies with functional differences in gene expression. Studies show trisomy 21 results in altered expression of microRNAs (noncoding RNA involved in post-transcriptional gene regulation, possibly result in abnormal expression of specific proteins and contribute to the DS phenotype. Phenotypes vary, but dysfiguration of physical features and ability to learn are observed in all reliable diagnosis. Cytogenetic investigation of DS is how to establish a precise diagnosis, the karyotype analysis identifies cases of inheritance of the parents' karyotypes. To establish the risk of recurrence in future generations. Accurate estimation of recurrence depends on verification of the patient’s karyotype. Free trisomy 21 and mosaicism don’t …show more content…
Genetic counseling is important in guiding parents in care for children with DS. Individuals with DS experience delay in developmental steps. Counseling with speech, occupational, or physical therapy is recommended.