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genetic disorders

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genetic disorders

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  1. GENETIC DISORDERS Deepmala paul Govt college of nursing Gwalior

  2. INTRODUCTION Genetic disorders include extra chromosomes, absence of chromosomes, deletion of parts of a chromosomes, or addition of chromosomal material and alteration to the forms of chromosomes, the incidence of chromosomal abnormalities in live birth in approximately 1 to 200.

  3. Trisomy 13: Micro cephalic head, wide sagittal suture and fontanels, malformed ears, small eyes, extra digits severe hypotonia, severe mental retardation, congenital heart defect, cleft lip, cleft plate. TRISOMY 13

  4. First described by Patu and associates in 1960, characterized by hare lip, cleft palate, eye defects and extra fingers. PATAU SYNDROME (TRISOMY 13-15)

  5. First described in 1960 by Edwards and associates characterized by abnormal facial features webbing of the neck, congenital heart abnormalities. EDWARD’S SYNDROME (TRISOMY 17-18)

  6. Prominent occiput, low set ears, short eyelid, fissures, severe mental retardation, severe hypotonia, webbing, clenched fist with index finger over third digit and fifth digit overlapping the fourth, hypoplasia of finger nails narrows hips with limited abduction, short sternum, congenital cardiac defects. TRISOMY 18

  7. First described by Langdo Down in 1866, an autosomal abnormality with a karyotype of 47. Chromosomes has a variable effect but characteristic physical appearance evident from birth. It is the commonest chromosomal abnormality. DOWN’S SYNDROME (TRISOMY 21)

  8. A condition where there is an extra X chromosome which may produce no obvious physical or sexual abnormality. TRIPLE X SYNDROME (TRISOMY X)

  9. klinefelter syndrome (trisomy x) with 2x chromosomes First described by Klinefelter and associates in 1942, it is the most common sex chromosome abnormality in males and is characterized by development of female secondary sex characteristics. OTHER X CHROMOSOME ANOMALIES IN FEMALES

  10. XXY SYNDROME (TRISOMY Y) First described by Sand berg and associates in 1961 characterized by tallness, normal physical and sexual development and a tendency towards antisocial behavior. OTHER X CHROMOSOME ANOMALIES IN MALES

  11. MICROCEPHALY (TRUE) Characterized by a small cranial circumference of 43 cm (17 inch) or les in an adult, but with facial feature of normal size. OTHER Y CHROMOSOMES ANOMALIES IN MALES

  12. First described by Lejeune and associated in 1963. The condition is characterized by a cat like cry in infancy, multiple deformities and severe mental handicap. CRI DU CHAT SYNDROME (DELETION OF SHORT ARM OF CHROSOMES)

  13. First described in 1880 as a syndrome characterized by severe mental handicap, epilepsy and a facial rash (adenoma sebaceum) TUBEROUS SCLEROSIS (EPILOIA)

  14. First described in 1964 by Lesh and Nyhan. An inborn error of purine metabolism characterized by severe mental handicap, athetosis and self mutilation. LESCH- NYHAN SYNDROME (INFANTILE- HYPERURICAEMIA)

  15. First described by Lawrence and Moon in 1866 with further symptomatology reported on by Bardet (1920) and Biedi (1933). It is characterized by obesity, retinal degeneration and underdevelopment of the genitalia. LAWRENCE- MOON- BARDET BIEDL SYNDROME

  16. First described by Folling in 1934. A disorder of protein metabolism characterized by fair complexion and hair, skin disorders and manneristic behavior. PHENYLKETONURIA

  17. First reported by Reuss in 1908. A disorder of carbohydrates metabolism characterized by failure to thrive, enlargement of the liver and spleen, development of cataracts and mental handicap in those cases which are not diagnosed and treated. GALACTOSAEMIA

  18. Fiirst described by Tay (1881) and Sachs (1886). A condition of abnormal storage of lipid (fat) material in tissues which leads to their degeneration. It is characterized by progressive deterioration of intellect and vision. TAY- SACHS DISEASE

  19. Turner syndrome is a common abnormality of the sex chromosome. The phenotype is female. It occurs in about 1 in 4000 live female births. Affected features are often aborted spontaneously. The abnormality is due to a loss of all or part of one of the sex chromosomes. TURNER SYNDROME

  20. There are tow basic types of thalassemia, alpha and beta. In alpha thalassemia, synthesis of the alpha chain of the hemoglobin protein is affected. Problems with the beta chain occur more often and the condition beta thalessemia can be divided into three subcategories bases on severity. THALASSEMIA

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