GENETIC CHART 1

Questions:

1. Identify the syndrome

2. Write the karyotype

3. What is the cause?

4. Write any four clinical features of the syndrome

5. Write any one risk factor?

Answers:

1. Downs syndrome

2. 47XY,+21

3. Trisomy 21 or Robertsonian translocation (1/4 marks)

4. Clinical Features: Mental Retardation, Small Stature, Hypotonia Of Muscles,

Brachycephaly With Flat Occiput, Low Set Ears, Mongoloid Slant-,Nystagmus, Iris
Speckles, Flat Nose, Open Mouth With Tongue Protruding, High Arched Palate,
Delayed Dentition, Short & Broad Hands- Clinodactyly- Simian Crease, CVS
Defects.

5. a) Maternal age b) previous history of DS in family

 GENETIC CHART 2

Questions:

1. Identify the syndrome

2. Write the karyotype

3. What is the cause?

4. Write any four clinical features of the syndrome

5. Write any one risk factor?

Answers:

1. Downs syndrome

2. 47XY,+21

3. Trisomy 21 or Robertsonian translocation

4. Clinical Features: Mental Retardation, Small Stature, Hypotonia Of Muscles,

Brachycephaly With Flat Occiput, Low Set Ears, Mongoloid Slant-,Nystagmus, Iris
Speckles, Flat Nose, Open Mouth With Tongue Protruding, High Arched Palate,
Delayed Dentition, Short & Broad Hands- Clinodactyly- Simian Crease, CVS
Defects.

5. a) Maternal age b) previous history of DS in family (1/4 marks)

 GENETIC CHART 3

Questions:

1. Identify the syndrome.

2. What is the cause?

3. What is the karyotype?

4. What are clinical features? [write any two]

Answers:

1. Turner’s syndrome

2. Non-disjunction, gonadal dysgenesis

3. 45XO- female phenotype

4. Clinical features: short stature, webbed neck, cubital valgus, low posterior hair
line, broad chest with widely spased nipples, congenital malformations- cvs
defects[coarctation of aorta, VSD], urinary [horse shoe deformity, renal
hypoplasia, aplastic/ duplication of Ureter], genitals [streak of ovaries, secondary
sexual characters not fully developed, primary amenorrhoea, juvenile genetalia]
 GENETIC CHART 4

Questions:

1. Identify the syndrome.

2. What is the cause?

3. What is the karyotype?

4. What are clinical features? [write any two]

Answers:

1. Turner’s syndrome

2. Non-disjunction, gonadal dysgenesis

3. 45XO- female phenotype

4. Clinical features: short stature, webbed neck, cubital valgus, low posterior hair
line, broad chest with widely spased nipples, congenital malformations- cvs
defects[coarctation of aorta, VSD], urinary [horse shoe deformity, renal
hypoplasia, aplastic/ duplication of Ureter], genitals [streak of ovaries, secondary
sexual characters not fully developed, primary amenorrhoea, juvenile genetalia]
 GENETIC CHART 5

Questions:

1. Identify the syndrome.

2. What is the karyotype?

3. What is the cause?

4. What are clinical features? [write any three]

Answers:

1. Klinefelter’s syndrome
2. 47XXY (1/2 marks)
3. Non dysjunction in males
4. Clinical Features Are Tall Thin Enuchoid, Poorly Developed Secondary Sexual
Characters, Testis – Small In Size, Scrotum & Penis- Hypoplasia, Gynaecomastia,
IQ- Normal/ Little Low.
 GENETIC CHART 6

Questions:

1. Identify the syndrome.

2. What is the karyotype?

3. What is the cause?

4. What are clinical features? [write any three]

Answers:

1. Klinefelter’s syndrome
2. 47XXY
3. Non dysjunction in males
4. Clinical Features Are Tall Thin Enuchoid, Poorly Developed Secondary Sexual
Characters, Testis – Small In Size, Scrotum & Penis- Hypoplasia, Gynaecomastia,
IQ- Normal/ Little Low.
 GENETIC CHART 7

Questions:

1. Identify the chart.

2. What is the method of analysis called?

3. Which phase of cell division is arrested?

4. What are the different banding patterns?

5. What are the different types of chromosomes depending on the centromere

location?

Answers:

1. Normal female Karyotype

2. Karyotyping

3. Metaphase

4. G-banding, Q-banding, R-banding, C-banding

5. Metacentric, Submetacentric, Acrocentric, Telocentric

 GENETIC CHART 8

Questions:

1. Identify the chart.

2. What is the method of analysis called?

3. Which phase of cell division is arrested?

4. What are the different banding patterns?

5. What are the different types of chromosomes depending on the centromere

location?

Answers:

1. Normal male Karyotype

2. Karyotyping
3. Metaphase
4. G-banding, Q-banding, R-banding, C-banding
5. Metacentric, Submetacentric, Acrocentric, Telocentric

GENETIC CHART 9
Questions:

1. Identify the marked arrow structure

2. In what condition is this observed?
3. How it is transmitted
4. What is the cause for it.

Answers:

1. Hairy pinna
2. Y- linked disorder
3. All affected male transmits the trait to all his sons but none to his
daughters
4. Genes on Y-chromosome show holandric inheritance. The Y chromosome
bear H-Y antigen

GENETIC CHART 10
Questions:

1. Identify the given picture

2. What does the mark arrow represent
3. In which phase it is observed?
4. What is the diagnostic tool to observe it

Answers:

1. Barr body
2. It represents the condensed and inactive form of one of the two X
chromosomes of a female cell.
3. Interphase
4. Buccal smear (inner side of cheek is taken on a slide) for sex chromatin
study and karyotyping.

GENETIC CHART 11
Questions:

1. Identify the syndrome

2. Write the karyotype

3. What is the cause?

4. Write any four clinical features of the syndrome

Answer:

1. Marfan syndrome.
2. 47 XXY with mutation in fibrillin- 1 gene located on 15q.
3. The cause is due to Pleiotropic effect on the gene which seen in autosomal
dominant trait.
4. Myopia, Displaced Lens, Unusually Long And Slender Limbs, Pectus
Excavatum (Hollow Chest) Pectus Carinatum (Pigeon Chest), Scoliosis
Arachnodactyly( Long Slender Fingers), Hypermobility, Prolapsed The
Mitral Valve, Mitral Regurgitation, Dilatation Of Ascending Aorta, Left
Ventricular Hypertrophy And Cardio Myopathy.

GENETIC CHART 12
Questions:

1. Identify the syndrome

2. Write the karyotype

3. What is the cause?

4. Write any four clinical features of the syndrome

Answer:

1. Cri –Du- Chat Syndrome

2. 46, XY, 5p- .
3. Deletion of the short arm of chromosome 5.
4. Cranio Facial Dysmorphism,Epicanthal Folds, Microcephaly,
Hypertelorism, Antimongoloid Slant Of Palpebral Fissure, Low Set Ears,
Micrognathia(Small Chin)