Genetics

Question 1

Presentation of Down syndrome

Answer 1

LD
CHD
hypothyroidism 
immunity 
Early onset Alzheimer disease

Question 2

Genetics of down syndrome

Answer 2

Trisomy 21

Question 3

What to look at in the examination of a dysmorphic child

Answer 3

position and shape of facial features
Hands
Growth of child
general features

Question 4

What does low set posteriorly rotated ears indicate?

Answer 4

Lack of maturity

Question 5

Types of sizes of head

Answer 5

macroencephaly

Microencephaly

Question 6

What is orbital hypertelorism?

Answer 6

Increased distance between eyes

- inner canthal distance ICD and inter pupillary distance IPD increased

Question 7

What to look at at the eyes to look at a dysmorphic child

Answer 7

Hypertelorism
Telecanthus / epicanthic folds
- ICP and IPD increased

Question 8

What hand measurements are done?

Answer 8

Finger length
Digital abnormalities
Palmar creases

Question 9

Examples of conditions where hand measurements would be altered

Answer 9

Marfan syndrome

Down syndrome

Question 10

How can malformation present?

Answer 10

Alone

As part of a syndrome

Question 11

Features of acrocephalopolysyndactyly

Answer 11

Tall forehead
Polydactyly
Syndactyly

Question 12

Pierre-Robin sequence

Answer 12

Small chin to cleft palate

Question 13

Fetal akinesia sequence

Answer 13

Reduced foetal movement
reduced breathing 
contractures
clefting 
lung hypoplasia 
Abnormal limp position

Question 14

What is deformation and disruption?

Answer 14

Pattern of development normal to start with but becomes abnormal

Question 15

Derformation vs disruption

Answer 15

Deformation = Organ parts are there
Disruption = parts of organ / body parts absent

Question 16

What is association?

Answer 16

Two features or more occur together often than expected than by chance

Question 17

VATER of association stands for…

Answer 17

Vertebral anomalies
Ano rectal atresia
Tracheo oesophageal fistula
Radial anomalies

Question 18

Genetics of turners syndrome

Answer 18

45, X

Question 19

Presentation of turner syndrome

Answer 19

Lymphodema 
- puffy feet
- nuchal translucency 
- cystic hygroma 
Increased carrying angle
low hairline 
wide sp nipples
sandal gap 
short stature 
Very mild LD 
Coarctation of aorta
Hypothyroidism 
UTI 
Osteoporosis 
HTN
Primary amenorrhea and infertility

Question 20

Genetic investigations of LD

Answer 20

Microarray
Fragile X
Targeted tests driven by phenotype

Question 21

Presentation of 22q11 deletion syndrome

Answer 21

Cleft palate
Abnormal facies
thymic hypoplasia/immune deficiency 
calcium 
heart problems
- caused by 22 deletion 
- "catch 22"

Question 22

What is Glut 1 deficiency caused by?

Answer 22

SLC2A1 deletion or mutation

Question 23

Treatment of glut 1 deficiency

Answer 23

Ketogenic diet

Question 24

Feature of her occiput in downs syndrome?

Answer 24

Flat occiput

Question 25

CF is caused by a mutation on which chromosome?

Answer 25

Chromosome 7

Question 26

Inheritance of Prader willi syndrome

Answer 26

Imprinting

Question 27

Describe imprinting

Answer 27

The patient does not have to receive gene from father

The mothers gene may be normal but that does not prevent the phenotype from occurring.

Question 28

What does the phenotype of PW syndrome consist of?

Answer 28

Obesity
LDs`
Hypotonia
Desire to eat

Question 29

What diet should CF patients have?

Answer 29

High calorie and high fat

With pancreatic enzyme supplementation for every meal

Question 30

What is genetic application?

Answer 30

Hereditary diseases have an earlier age of onset through successive generations

Question 31

Examples of diseases with genetic application

Answer 31

Huntingtons

Myotonic dystrophy

Question 32

What is fragile X associated with?

Answer 32

Mitral valve pr olapse

Question 33

Features of fragile X

Answer 33

LDs
Macrocephaly
Large ears
Macro-orchidism