O slideshow foi denunciado.
Utilizamos seu perfil e dados de atividades no LinkedIn para personalizar e exibir anúncios mais relevantes. Altere suas preferências de anúncios quando desejar.

Glimpses of syndromes of Chromosomal Abnormalities & Genetic Diseases

1.029 visualizações

Publicada em

Glimpses of syndromes of Chromosomal Abnormalities &
Genetic Diseases

Publicada em: Saúde e medicina
  • Hello! Get Your Professional Job-Winning Resume Here - Check our website! https://vk.cc/818RFv
       Responder 
    Tem certeza que deseja  Sim  Não
    Insira sua mensagem aqui

Glimpses of syndromes of Chromosomal Abnormalities & Genetic Diseases

  1. 1. Glimpses of syndromes of Chromosomal Abnormalities & Genetic Diseases DR. SHARDA JAIN DR. JYOTI AGARWAL
  2. 2. PRESENTATION OF CHROMOSOMAL ABNORMALITY • Aneuploidy • Deletion • Microdeletion • Duplication & • Genetic Disease
  3. 3. AUTOSOMAL OR SEX CHROMOSOME ANEUPLOIDY 1. Down : Trisomy21 : 1/800 live births 2. Edwards : Trisomy 18 : 1 in 8000 live births 3. Patau : Trisomy 13 : 1 in 20,000 live births 4. Turner : 45,x : 1 in 8000 newborn females 5. Klinefelter : 47, XXY : 1 in 1000 newborn males 6. Triple X : 47 , XXX : 1 in 1000 newborn females 7. XXY : 47, XYY : 1 IN 1000 newborn males
  4. 4. DOWN SYNDROME TRISOMY 21
  5. 5. INCIDENCE : 1/800 live births Short, broad hands with single palmar crease, decreased muscle tone, mental retardation, broad head with characteristic features , open mouth with large tongue, up – slanting eyes DOWN SYNDROME TRISOMY 21
  6. 6. Edwards Trisomy 18
  7. 7. INCIDENCE : 1 in 8000 live births Multiple congenital malformation of many organs, low – set malformed ears, receding mandible small eyes mouth & nose with general elfin appearance , severe mental deficiency, congenital heart defect, horseshoe or double kidney, short sternum, posterior heel prominence Edwards Trisomy 18
  8. 8. PATAU TRISOMY 13
  9. 9. INCIDENCE : 1 in 20,000 live births Severe mental deficiency, small eyes cleft lip & or palate extra fingers & toes, cardiac anomalies, midline brain anomalies, genitourinary abnormalities. PATAU TRISOMY 13
  10. 10. TURNER 45, X
  11. 11. INCIDENCE : 1 in 8000 newborn females Female with retarded sexual development, usually sterile, short stature, webbing of skin in neck region vardiovascular abnormalities , hearing impairment , normal intelligence TURNER 45, X
  12. 12. Klinefelter 47, xxy
  13. 13. INCIDENCE : 1 in 1000 newborn males Male, infertile with small testes, may have some breast development, tall, mild mental deficiency, long limbs, at risk for education problems. Klinefelter 47, xxy
  14. 14. Triple X 47,
  15. 15. INCIDENCE : xxx 1 in 1000 newborn females Females with normal geniralia & fertility, at risk for educational & emotional problems, early menopause Triple X 47,
  16. 16. XXY 47
  17. 17. INCIDENCE : xyy 1 in 1000 newborn males Tall male with normal physical / sexual development, normal intelligence, increased tendency for behavioral & psychological problems XXY 47
  18. 18. AUTOSOMAL DELETIONS
  19. 19. AUTOSOMAL DELETIONS SYNDROME CHROMOSOME REGION DELETED 1. Wolf hirschhorn 4p16.3 2. Cri du Chat 5p15.2 1 in 50,000 births 3. Langer Giedion 8q24.11-q24.13
  20. 20. Wolf- Hirschhorn 4p16.3
  21. 21. Severe growth retardation, midline facial defects, mental retardation defects, mental retardation, small head, prominent frontal bone between eyebrows, cleft lip/ palete, cardiac defects, wide – spaced eyes, broad nasal bridge Wolf- Hirschhorn 4p16.3
  22. 22. Cri du chat 5p15.2 1 in 50,000 births
  23. 23. High – pitched cry, wide – spaced eyes, small chin, small head , round face, severe psychomotor & mental retardation Cri du chat 5p15.2 1 in 50,000 births
  24. 24. Langergiedion Small head, mental retardation, sparse hair, bulbous nose, short stature multiple cartilanous growth on bone surfacesgi
  25. 25. Autosomal microdeletion syndromes
  26. 26. Autosomal microdeletion syndromes Syndrome Chromosome Region Incidence Williams 7q11.23 1/20,000 WAGR 11p13 Preder - willi 15q11.2 1/10000 angelman 15q11.2 1/10000 Miller - dieker 17p13.3 Smith - magenis 17p11.2 1/25000 alagille 20p11.23-p12.2 catch22 22q11.2 DiGeorge 22q11.2 1/5000 velocardiofacial 22q11.2
  27. 27. Williams 7q11.23
  28. 28. INCIDENCE : 1/20000 Cardiac anomalies, mental retardation, characteristic facies growth retardation, gregarious disposition, connective – tissues problems Williams 7q11.23
  29. 29. WAGR11p13 Kidney tumour, absence of iris, genital abnormalities, growth retardation
  30. 30. Preder – willi 15q11.2
  31. 31. INCIDENCE : 1/10 000 Developmental delay, mental retardation, decreased muscle tone obesity , small genitals, excessive appetite, hypopigmentation Preder – willi 15q11.2
  32. 32. Angelman 15q11.2
  33. 33. INCIDENCE :1/10 000 Developmental delay, mental retardation, decreased muscle tone obesity , small genitals, excessive appetite, hypopigmentation Angelman 15q11.2
  34. 34. Miller – dieker 17p13.3
  35. 35. Miller – dieker 17p13.3 Smooth brain, small head, small chin, growth failure, cardiac abnormalities.
  36. 36. Smith – megenis 17p11.2
  37. 37. Smith – megenis 17p11.2 INCIDENCE : 1/25 000 Flat midface, wide head, broad nasal bridge, short fingers & toes, mental retardation, hyperactivity, short stature, characteristics behavioral problems.
  38. 38. Alagille 20p11.23 – p12.2
  39. 39. Alagille 20p11.23 – p12.2 Chronic bile flow suppression, dysmorphic facies, ring – like corneal opacity, vertebral arch defects, narrowing of heart opening
  40. 40. Catch22 22q11.2
  41. 41. Catch22 22q11.2 Cardiac defects, abnormal facias, underdeveloped thymus, cleft palete, decreased calcium in blood.
  42. 42. DiGeorge 22q11.2
  43. 43. DiGeorge 22q11.2 INCIDENCE : 1/5000 Underdevelopment thymus & parathyroid glands, facial abnormalities, cardiac defects 1/5000 underdeveloped thymus & parathyroid glands, facial abnormalities, cardiac defects.
  44. 44. Autosomal Duplication Syndromes
  45. 45. Autosomal Duplication Syndromes Syndrome Chromosome Region Incidence Beckwith wiedemann 11p15.5 1 in 13700 births Charcot – marietooth disease type 1A 17p11.2 – p12 Most common inherited peripheral neuropathy in humans; 1 in 2500 Cat – eye 22pte
  46. 46. Beckwith wiedemann 11p15.5 1 in 13700 births
  47. 47. Beckwith wiedemann 11p15.5 1 in 13700 births Large tongue, tissues & organ overgrowth, mild mental retardation
  48. 48. Charcot – Marietooth disease type 1A 17p11.2-p12 most common inherited peripheral neuropathy in humans; 1 in 2500
  49. 49. Charcot – Marietooth disease type 1A 17p11.2-p12 most common inherited peripheral neuropathy in humans; 1 in 2500 Decreased reflexes, prograssive distal muscular wasting, decreased muscle tone, sensory neuropathy
  50. 50. Cat- eye 22pter-q11.2
  51. 51. Cat- eye 22pter-q11.2 Eye defects absebce of anal opening skin tags in front of ears, characteristic facies, renal, skeletal & genital anomalies mental retardation
  52. 52. Antenatal Biochemical & Ultrasound screening for fetal chromosomal Abnormalities 1. Combined biochemical ultrasound first trimester screening should be offered to all age groups. 2. It is validated & should be offered in multiple pregnancy as well 3. Risks are the same for all fetuses in a monochorionic pregnancy & different for each fetus in dichorionic pregnancy. 4. Ensure screening ultrasound done appropriately by trained & certified sonographers. 5. Quadruple marker has better sensitivity than triple marker (Triple Marker sensitivity be done) 6. No role of second trimester biochemical screening in multiple pregnancy
  53. 53. BOOKING VISIT Pretest counseling for down’s syndrome For every patients irrespective of age Explain difference between screening & diagnostic testing First Trimester (11 weeks to 13+6 weeks ) Screening Diagnostic Invasive Testing CVS at 6 weeks Amniocentesis at 11 to 13 weeks
  54. 54. Screening Serum Biochemistry (b hCG + PAPP –A)at 10-13+6 weeks or non invasive cell free fetal DNA test & Ultrasound marker (CRL 45 to 84mm) (Nasal bone + NT + Ductus Venosus pl Tricuspid Regurgitation) preferable High Risk (>1 in 150) for Combined test Intermediate risk 1:150 – 1:1500 Low risk(<1 in 1500) Anomaly – Level H Scan (18 to 20 weeks Second Trimester Quadruple marker at 16 to 20 weeks (AFP, b hCG, uE3, inhibin) Anomaly – Level 11 Scan (18 to 20 weeks) Send to fetal medical Unit High Risk
  55. 55. ADDRESS 11 Gagan Vihar, Near Karkari Morh Flyover, Delhi - 51 CONTACT US 9650588339 9599044257 011-22414049 WEBSITE : www.lifecareivf.in www.lifecarecentre.in www.lifecareabs.in ISO 14001:2004 (EMS) …..Caring hearts, healing hands ISO 9001:2008 26 Year In your service

×