THE MEANING OF GENOMIC IMPRINTING IN HUMAN GENETIC AND DEFECTOLOGY
Journal Title: Journal of Special Education and Rehabilitation - Year 2000, Vol 4, Issue 3
Abstract
Several genetic phenomena do not appear to conform the Mendel's low in the sense that they are not inherited in simple way through the generations. Such exceptions to Mendel's laws include new mutations, changes in chromosomes, expanded triplet sequences, and genomic imprinting. Many genetic diseases involve spontaneous mutations that are not inherited from generation to generation. Changes in chromosomes include nondisjunction, which is the most important cause of mental retardation, the trisomy of Dowen syndrome. Expanded triplet repeats are responsible for the next important cause of mental retardation, fragile X, and for Huntington's disease. Genomic imprinting occurs when the expression of a gene depends on whether it is inherited from the mother or from the father. In this paper the phenomenon of genomic imprinting is explained on the occurrence of Angelman and Prader-Willi syndromes. It's essential for the counselor to be able during the genetic counseling to recognize this phenomenon and to make a proper decision.
Authors and Affiliations
Anastas LAKOVSKI
Keywords
Related Articles
- EP ID EP7655
- DOI -
- Views 429
- Downloads 20
ORGANIZATION OF MANUFACTURE WORK FOR STUDENTS WITH EASY DIFFICULT IN THEIR PSIHIC DEVELOPMENT IN SPECIAL ELEMENTARY SCHOOL "IDNINA”
Some of the students in the special elementary school are unable to continue their education in higher school, because of many objective reasons. Only from that reasons elementary school is the place for their education,...
SERUM ANALYSIS OF AMYLOID BETA-PROTEIN 1-40 IN HEALTHY SUBJECTS, AUTISTIC CHILDREN AND ALZHEIMER’S PATIENTS
Amyloid beta-protein1-40 (AP40) is a low molecular weight peptide produced throughout life during normal cell metabolism and neurodegenerative diseases. Owing to its neurotrophic and neurotoxic effects, the present stud...
OVERPROTECTION AND ADOLESCENTS WITH PHYISICAL DISABILITIES
The article deals with the effects of overprotection on the care and development of children with physical disabilities. The focus is on the professional work of carers caring for young people with physical disabilities...
THE MEANING OF THE PREVENTION WITH SPEECH THERAPY AS A IMPORTANT FACTOR FOR THE PROPER DEVELOPMENT OF THE CHILDREN SPEECH
The paper presented some conscientious and results from the finished research which showing the meaning of the prevention with speech therapy in the development of the speech. The research was done at Negotino and with t...
THE NEUUROPATHOLOGY OF AUTISM: A SELECTIVE REVIEW
Autism is a neurodevelopmental disorder characterized by impairments in cognitive, language and social skills. While the etiology remains unclear, it is viewed primarily as a highly heritable disorder. In this article,...