Genetic disordrs

Question 1

What causes turner’s syndrome?

Answer 1

Missing an X chromosome aka 45 X

Question 2

What are the dysmorphic features of Turner’s Syndrome?

Answer 2

• Increased carrying angle
• Low Hairline
• Wide spaced nipples
• Sandle Gap
• Short Stature
• Lymphoedema

Question 3

What congenital cardiac disease is often associated with Turner’s Syndrome?

Answer 3

Coarctation of the Aorta

Question 4

What conditions does Turner’s predispose you to?

Answer 4

Hypothyroid
UTI
Osteoporosis
HTN

Question 5

Summary of Turner’s Syndrome?

Answer 5

45,X

Increased carrying angle, low hairline, wide spaced nipples, sandle gap, short stature & lymphoedema

Coarcted Aorta

Hypothyroid
UTIs
Osteoporosis
HTN

Primary Amenorrhoea & Infertility

Question 6

Can you do anything to treat Turner’s Syndrome?

Answer 6

Hormonal Therapy can help with some of the symptoms

Question 7

What are the dysmorphic features of Down’s Syndrome?

Answer 7

Low Set ears
Upslanted Palpebral fissures
Epicanthic folds
Single palmar crease
Sandle Gap
Flat facial profile
Large fontanelle

Question 8

What conditions are you more likely to develop with Down’s Syndrome?

Answer 8

AML
Hypothyroidism
Early onset Alzheimer's
Coeliac
Infections

Question 9

What congenital defects are you born with in Trisomy 21?

Answer 9

AVSD

~Duodenal Atresia

Question 10

Summary of Down’s Presntation?

Answer 10

Low ears, upward slanted palpebral fissures, epicanthic folds, single palmar crease, wide sandle gap, flat face and lage fontanelle

Babies = Hypotonia

Congenital = AVSD & Duodenal Atresia

LDs

Predisposed to: AML, hypothyroid, early alzheimers, coeliac and infection

Question 11

How do we screen for Trisomy 21 in-utero?

Answer 11

US for Fetal Nuchal Translucency

Beta-HCG & PAPP-A

If risk >1in150:

• Chorionic Villus Sampling (10-14wks)
• Amniocentesis (>15wks)

Question 12

Some genetic features are known to be associated together, What is the VATER association?

Answer 12

• Vertebral & VSD
• Anorectal Atresia
• Tracheo-
• Esophageal Fistula
• Radial Anomalies

Question 13

What types of testing can be done for genetic disorders?

Answer 13

REcognise the patterns
Biochemical, chromosome structure and microarray tests

Targeted testing

Exome/genome testing

Question 14

What would you test for when assessing LDs?

Answer 14

• Microarray
• Fragile X- this is a condition
• Targeted tests
• Exome/Genome analysis

Question 15

What are the features of 22q11 deletion syndrome?

Answer 15

CATCH 22:

• Cardiac (Tetralogy or truncus arteriosus)
• Abnormal Facies
• Thymic Hypoplasia
• Cleft Palate
• Hypocalcaemia

Question 16

How would you go about diagnosing a dysmorphic child

Answer 16

Head

• Microcephaly
• Macrocephaly
• Ear position

Hands

Growth of child
General features

Question 17

what would you say about the eyes?

Answer 17

• Hypertelorism : increased distance between the pupils or the corner of the eye
• Telecanthus: distances between the corners of the eyelid increase

Question 18

What is Marfan’s disease?

Answer 18

• AD disorder

- Associated with Fibrillin abnormality- connective tissue disorder

Question 19

What is the presentation of Marfan’s and some possible complications

Answer 19

• Long neck
• Tall
• Long fingers: arachnodactyly
• Valve abnormalities
• Pectus excavatum/ Pectus carinatum
• Hyper mobility

Complications

• Murmur
• Scoliosis
• Joint translocation
• GORD

Question 20

What is Williams syndrome?

Answer 20

Deletion on chromosome 7

Associated with Supra valvular stenosis

Question 21

What is Noonans syndrome

Answer 21

AD

associated with pulmonary stenosis (congenital )