genetics.pptx
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Chromosomes contain DNA and pair up in cell nuclei. They vary in size and shape depending on the position of the centromere. Abnormalities can be numerical, involving extra or missing chromosomes, or structural like translocations. Common syndromes include Down syndrome, caused by trisomy 21 with characteristic facial features. Turner's syndrome results from a single X chromosome in females and causes short stature and infertility. Diagnosis involves genetic testing. Management focuses on supportive care and treatment of specific issues.
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This document discusses various types of chromosome abnormalities including numerical abnormalities (involving extra or missing chromosomes) and structural abnormalities (involving changes in chromosome structure). It describes several specific chromosome disorders including Down syndrome, Edward's syndrome, Patau's syndrome, Turner syndrome, Klinefelter syndrome, and others. It explains the causes and clinical features of these conditions. It also discusses structural changes like deletions, duplications, inversions, translocations, ring chromosomes, and isochromosomes that can occur at the chromosome level.
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Cytogenetics techniques involve studying chromosomes to diagnose genetic conditions. Cells that can be used for chromosome analysis must have a nucleus and be capable of cell division. Clinical cytogenetic testing is performed for fertility issues, abnormal fetuses, advanced maternal age, family histories of genetic disorders, developmental issues, and cancers. Chromosome abnormalities are common in miscarriages, stillbirths, and live births over 35. Each chromosome has two arms labeled p and q. Chromosomes condense during cell division and form a karyotype that can reveal abnormalities. Common aneuploidies include trisomies of chromosomes 13, 18, and 21.
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Chromosomal aberrations can be numerical, involving a change in chromosome number, or structural, involving a change in chromosome structure. Common numerical aberrations include monosomy, such as Turner syndrome caused by X monosomy, and trisomy, such as Down syndrome caused by trisomy 21. Structural aberrations include translocations, where genetic material transfers between chromosomes, and deletions or duplications of parts of chromosomes. These aberrations can have varying effects on development and health depending on the chromosomes and genetic material involved.
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Chromosomes are structures that carry hereditary information in the form of genes. Each chromosome contains DNA and protein. There are different types of chromosomes, including autosomes that determine physical traits and sex chromosomes that determine sex. Chromosomes have a complex structure with regions like the centromere and telomeres that allow for cell division. They perform essential functions like DNA replication, gene expression, and transmitting traits from parents to offspring.
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This document provides an overview of chromosomes. It begins by defining a chromosome as a structure that carries genetic information in the form of genes. Chromosomes are located in the cell nucleus and are made up of DNA and protein. The total complement of genes in an organism makes up its genome, which can be stored on one or more chromosomes. In humans, there are usually 22 pairs of autosomes and one pair of sex chromosomes, for a total of 46 chromosomes. The document then discusses chromosome structure, the different types of chromosomes, the functions of chromosomes, and differences between prokaryotic and eukaryotic chromosomes. It concludes by defining chromosome aberrations and describing the two main types: structural and numerical aberrations.
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Chromosomal aberrations are structural or numerical changes in chromosomes that can occur due to errors in cell division. There are two main types - numerical abnormalities which change the number of chromosomes like aneuploidy (extra or missing chromosome) and polyploidy (multiple sets of chromosomes), and structural abnormalities which change the chromosome structure like deletions, duplications, inversions, and translocations. Specific chromosomal abnormalities cause genetic syndromes with characteristic physical and developmental features.
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A chromosome is a long DNA molecule that carries genetic information within cells. Chromosomes are categorized based on features like centromere placement and arm length ratios. Chromosomal abnormalities can cause genetic disorders and are identified through karyotyping. Examples discussed include trisomies like Down syndrome, monosomies like Turner syndrome, and deletions or duplications of chromosome segments. Structural aberrations alter chromosome structure and include translocations, inversions, and deletions. Specific disorders result from defects in certain chromosomes.
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hi..this is publishing to enhanc ethe knowledge of students in medical and nursing field,and teachers in the same field
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- 1. GENETICS
- 2. Structure of chromosomes Chromosomes are the thread-like structure found in the nuclei of both animal and plant cells. They are made of protein and one molecule of deoxyribonucleic acid (DNA). In most of the organisms chromosomes are arranged in pairs in the nucleus of the cell. We have 23 pairs of chromosomes.
- 3. PHYSICAL STRUCTURE Size varies from 1 to 30 micron in length and diameter from 0.2 to 2 micron. CENTROMERE:- The non-stainable part of the chromosome making a primary constriction. CHROMATIDS:- Two chromatids join at the centromere to form a chromosome. CHROMONEMA:- In each chromatid, there are two longitudinal chromonemata coiled with each other. SURFACE VIEW
- 4. TYPES OF CHROMOSOMES 1. TELOCENTRIC:- The centromere is present at the end of the chromosomes. 2. ACROCENTRIC:-The centromere is almost terminal. It has one large and another very small arm. LONG ARM SHORT ARM CENTROMERE LONG ARM CENTROMERE
- 5. 3. SUB-METACENTRIC:- Here the centromere is not at the middle position of the chromosomes. So the arms are unequal and it is ‘L-Shaped’ in appearance. 4. METECENTRIC:- The centromere is at the middle position. So the arms are equal and it is ‘V-Shaped’ in appearance. LONG ARM CENTROMERE SHORT ARM CENTROMERE TWO EQUAL ARMS
- 6. Number Diploid : 46 Haploid: 23 pairs Poliploid : Normal multiplication of chromosomes 1 from paternal and 1 from maternal and fuse together to form 1 pair
- 7. Chromosomal abnormalities 2 patterns 1. Numerical pattern 2. Structural pattern
- 8. PATTRENS NUMERICAL PATTERN STRUCTURAL PATTERN - Triploid - Tetraploid - Aneuploid - Translocation - Deletion - Inversion - Ring chromosomes - Isochromosomes
- 9. 1. Translocation - Structural abnormalities take place in 2 chromosomes - Usually genetic meterial is same but it alter or it exchange Types : Balanced reciprocal translocation Robertsonian translocation
- 11. DELETION - Loss of part of chromosomes 1. Terminal deletion : distal part of the chromosome is deleted 2. Interstitial deletion : in between chromosome, any fragmentation or any part is broken. Remaining part will fuse together
- 13. INVERSION There will be break in the chromosomes But not separated Genetic material will not transferred Types: pericentric Paracentric
- 15. Isochromosomes Abnormal split in the centromere Both arms will be separated
- 22. Clinical Features Head and neck Brachycephaly Up-slanting palpebral fissures Epicanthal folds Brushfield spots Flat nasal bridge Folded or dysplastic ears Open mouth Protruding tongue Short neck Excessive skin at the nape of neck Extremities Short broad hands Short fifth finger Incurved fifth finger Transverse palmer crease Space between first and second toe Hyper flexibility of joints
- 28. Diagnosis History collection Physical examination Genetic screening Amniocentesis Chorionic villa sampling AFP and HCG
- 30. Complications Aspiration Sleep apnea Heart problems Meningitis
- 31. Prevention Genetic counseling Premarital counseling Identification of risk category Prevention of elderly pregnancy
- 32. TRISOMY – 18 (EDWARDS SYNDROME)
- 33. Definition Genetic Condition that causes severe developmental delays due to extra chromosome 18
- 34. Clinical features Small head MR symptoms Holoprosencephaly (failure of the fore brain to fuse Micro opthalmia (small eye) Low IQ Clenched hands Loss of tears Drooling saliva Difficulty in feeding Omphalocele Absence of plantar creases Uro-genital defect
- 36. Diagnosis History Physical examination Amniocenthesis
- 37. Complications Very poor prognosis Miscarriage Still birth 80% of the children will die within 1 year
- 38. Management Supportive and symptomatic management Speech therapy Rehabilitation Corrective surgeries
- 40. It is a set of symptoms that results from two or more X chromosomes in males The primary features are sterility and small testicles
- 41. Clinical features 1. Physical development 2. Language development 3. Social development
- 42. Diagnosis History and physical examination Chromosomal analysis
- 43. Management Medical management - Hormonal replacement therapy (TRT) - Treatment for infertility Educational therapy Occupational therapy Speech therapy Behavior therapy
- 45. Definition It is a chromosomal disorder in which female child born with only one X chromosomes Incidence: 1:8000
- 46. Clinical features Short structure Peripheral and lymph edema Webbing of the neck High arch palate associated with cleft palate Small jaw Microretrognathia Absence of ovaries and menstruation Infertility CVS anomalies Renal anomalies
- 48. Management Hormonal replacement therapy - Estrogen replacement therapy Supportive management