Paediatric genetics

Question 1

Way to investigate child with learning difficulties?

Answer 1

look at the chromosomes (karyotype)

Question 2

Down’s syndrome is associated with?

Answer 2

Learning disability
Congenital heart disease
Hypothyroidism
Immunity 
Early onset Alzheimer disease

Question 3

Pretnatal testing for downs syndrome

Answer 3

amniocentesis

free fetal DNA in maternal blood is no risk to fetus

Question 4

what is trisomy 18?

Answer 4

Edward’s syndrome

Question 5

Multiple congenital anomaly syndromes - what % are single gene disorders , chromosomal an teratogen?

Answer 5

30%
10%
5%

Question 6

Multiple Congenital Anomaly Syndromes are individually rare but?

Answer 6

common with a group

Question 7

how to diagnose a rare intellectual disability + / or malformation syndrome
- give examples of the testing used?

Answer 7

History
Description
Recognition of patterns
Testing
Standard- biochemical, chromosome structure
Microarray now standard
Targetted testing
Moving to trio-based exome / genome

Question 8

How do we describe a Dysmorphic Child? (4)

Answer 8

Position and shape of facial features
Hands
Growth of child
General features

Question 9

what to look for in the head?

Answer 9

Shape
Size: macrocephaly, microcephaly
Ear position
Low set, posteriorly rotated indicates lack of maturity

Question 10

Abnormalities of the eyes - what is Hypertelorism

Answer 10

Inner canthal distance ICD and inter-pupillary distance IPD increased (eyes are too far form each other)

Question 11

Abnormalities of the eyes - Telecanthus / epicanthic folds

Answer 11

the measurement between the eyes in increased

- Down’s syndrome

Question 12

what is telecanthi?

Answer 12

there are folds at the eyes

Question 13

what do we look at with hand measurements?

Answer 13

Finger length
Digital abnormalities
Palmar creases (normal 2)

Question 14

1 palmar crease can be seen in?

Answer 14

Down’s syndrome

Question 15

Marfan’s syndrome features

Answer 15

long fingers

- the MF/THL >44%

Question 16

what is Arachnodactyly

Answer 16

long, slender, and curved fingers

Question 17

what is Brachydactyly

Answer 17

short, fat, fingers

Question 18

polysyndactylty is common in what condition? - this is a malformation

Answer 18

fingers stuck together, more fingers than you want to have

• Hox D13 one cause

Question 19

acrocephalopolysyndatyly is found in?

this is a syndrome

Answer 19

Greig / GLI3

• tall forehead, too many fingers, some stuck together

Question 20

Greig syndrome features

Answer 20

acrocephalopolysyndatyly - tall forehead, polydactyly

syndactyly

Question 21

what is Pierre-Robin sequence?

Answer 21

small chin to cleft palate

Question 22

what is Fetal akinesia sequence? (5)

Answer 22

reduced fetal movement
reduced breathing
contractures
clefting
lung hypoplasia

• due to the baby not moving

Question 23

Fetal akinesia some are..? (3)

Answer 23

sporadic
recessieve
recurrence risk

Question 24

what is Deformation & Disruption?

Answer 24

Pattern of development normal to start with but becomes abnormal

Question 25

what its deformation mean ?

Answer 25

Organ parts are there

Question 26

what is disruption?

Answer 26

Parts of organ / body part absent

Question 27

give an example of Deformation & Disruption?

Answer 27

Amniotic bands in utero - amputated fingers - can see the crease, short fingers

Question 28

What is an association? | - GIVE AN EXAMPLE

Answer 28

two features or more features occur together more often than expected by chance mechanism unclear -VATER

Question 29

What are the VATER abnormalities?

Answer 29

vertebral anomalies / VSD ano-rectal atresia tracheo-oesophageal fistula radial anomalies

Question 30

What is a syndrome?

Answer 30

A distinct group of symptoms & signs which, associated together, form a characteristic clinical picture or entity Cause may or may not be known

Question 31

Physical Features of Turner's syndrome? (4)

Answer 31

``` Loss of tone sandal gaps in the foot, Nuchal folds behind neck puffy foot/puffy hand - lymohodema short stature wide nipple gap increased carrying angle ```

Question 32

Turners syndrome is where you have..?

Answer 32

an X chromosome but no Y | 45X

Question 33

Medical complications/conditions associated with Turner's syndrome?

Answer 33

Coarctation of aorta, hypothyroidism, UTI, osteoporosis & hypertension Primary amenorrhoea & infertility

Question 34

malformation syndrome - first step for testing when a baby is born?

Answer 34

- Microarray - Fragile X - Targetted tests driven by phenotype Trio based Exome vs. trio-base genome analysis Funding remains an issue Trio-based exome in Scotland

Question 35

22q11 deletion physical features? - medical complications

Answer 35

``` Cleft palate Abnormal facies Thymic hypoplasia / immune deficiency Calcium Heart problems Caused by 22 deletion almond shaped eye borad base nose, bulbous tip ```

Question 36

what are the features of CATCH 22 in 22q11 deletion

Answer 36

``` Cleft palate Abnormal facies Thymic hypoplasia / immune deficiency Calcium Heart problems ```

Question 37

22q11 deletion can be associated with?

Answer 37

palatal dysfucntion | loses food out of their nose

Question 38

how do we copy relevant parts the genome - different ways?

Answer 38

``` fragmentation and polishing linker ligation hybridization array washing target fragment elution ```