Glimpses of syndromes of Chromosomal Abnormalities & Genetic Diseases

1. Glimpses of syndromes of
Chromosomal Abnormalities
&
Genetic Diseases
DR. SHARDA JAIN
DR. JYOTI AGARWAL

2. PRESENTATION OF
CHROMOSOMAL ABNORMALITY
• Aneuploidy
• Deletion
• Microdeletion
• Duplication &
• Genetic Disease

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. DOWN SYNDROME TRISOMY 21

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. Edwards Trisomy 18

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. PATAU TRISOMY 13

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. TURNER 45, X

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. Klinefelter 47, xxy

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. Triple X 47,

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. XXY 47

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. AUTOSOMAL DELETIONS

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. Wolf- Hirschhorn 4p16.3

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. Cri du chat
5p15.2 1 in 50,000 births

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. Langergiedion
Small head, mental retardation, sparse
hair, bulbous nose, short stature
multiple cartilanous growth on bone
surfacesgi

25. Autosomal microdeletion syndromes

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. Williams 7q11.23

28. INCIDENCE : 1/20000
Cardiac anomalies, mental retardation,
characteristic facies growth retardation,
gregarious disposition, connective –
tissues problems
Williams 7q11.23

29. WAGR11p13
Kidney tumour, absence of iris, genital
abnormalities, growth retardation

30. Preder – willi 15q11.2

31. INCIDENCE : 1/10 000
Developmental delay, mental
retardation, decreased muscle
tone obesity , small genitals,
excessive appetite,
hypopigmentation
Preder – willi 15q11.2

32. Angelman 15q11.2

33. INCIDENCE :1/10 000
Developmental delay, mental
retardation, decreased muscle tone
obesity , small genitals, excessive
appetite, hypopigmentation
Angelman 15q11.2

34. Miller – dieker 17p13.3

35. Miller – dieker 17p13.3
Smooth brain, small head, small
chin, growth failure, cardiac
abnormalities.

36. Smith – megenis 17p11.2

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. Alagille 20p11.23 – p12.2

39. Alagille 20p11.23 – p12.2
Chronic bile flow suppression,
dysmorphic facies, ring – like
corneal opacity, vertebral arch
defects, narrowing of heart
opening

40. Catch22 22q11.2

41. Catch22 22q11.2
Cardiac defects, abnormal
facias, underdeveloped
thymus, cleft palete,
decreased calcium in blood.

42. DiGeorge 22q11.2

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. Autosomal Duplication Syndromes

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. Beckwith wiedemann
11p15.5 1 in 13700 births

47. Beckwith wiedemann
11p15.5 1 in 13700 births
Large tongue, tissues & organ
overgrowth, mild mental
retardation

48. Charcot – Marietooth disease type 1A
17p11.2-p12
most common inherited peripheral neuropathy in humans; 1
in 2500

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. Cat- eye 22pter-q11.2

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. 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. 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. 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

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