week 5

Question 1

what is the cause of single malformations?

Answer 1

caused by a isolated event

Question 2

how often does 22q11.2 deletion occur?

Answer 2

1 in 5,000

Question 3

what are the symptoms of 22q11.2?

Answer 3

Can vary dramatically
Learning difficulties ~70%  just need a bit of help in school
Cleft palate ~15%  palate not working properly when its not cleft
Velopharyngeal insufficiency 32%

Question 4

what disease are assocaited with 22q11.2?

Answer 4

Congenital heart defect 75%
Hypocalcaemia -->get fits associated with that 
Seizures
Immune deficiency
Renal malformation
Thrombocytopenia
Hearing loss

Question 5

what is thrombocytopenia?

Answer 5

a decreae in blood platelets

Question 6

what type of immuno deficiency disease can person with 22q11.2 develop?

Answer 6

graves diseae and rheumatoid arthritis

Question 7

what is achondroplasia?

Answer 7

It is a hereditary condition in which the growth of long bones by ossification of cartilage is retarded, resulting in very short limbs and sometimes a face that is small in relation to the (normal-sized) skull.

Question 8

what is the reccurence rate of achondroplasia and what type of mutation is it?

Answer 8

1 in 20000

autosomal dominant

Question 9

what mutation causes achondroplasia and what risk factors are there?

Answer 9

FGFR3 on chromosome 4 accounts for 99% of instants. Chances of passing this increase with paternal age as the mutation occurs in the sperm

Question 10

what are the symptoms of achondroplasia

Answer 10

Rhizomelic limb shortening
Short stature
Foramen magnum compression/ hydrocephalus

Question 11

what is the recurrence rate of Beckwith-Wiedemann syndrome and its signs?

Answer 11

large tongue, ear pits/creases

Question 12

what can Beckwith-Wiedemann syndrome cause?

Answer 12

Exomphalos –> is a weakness of the baby’s abdominal wall where the umbilical cord joins it.
Hemihypertrophy –> is a condition in which one side of the body or a part of one side is larger than the oth
Neonatal hypoglycaemia
Increased risk of Wilms tumour (nephroblastoma)

Question 13

what is the most common chromosomal disorder?

Answer 13

down syndrome –> 1 in 800

Question 14

what are the symptoms of down syndrome?

Answer 14

Learning difficulties
Congenital heart disease
Hypotonia in neonates
Single palmar cease
Have wide sandal gap
Cataracts
Hearing impairment

Question 15

what disease can down syndrome increase your likely hood of having

Answer 15

Hypothyroidism
Leukaemia
Atlanto-axial instability
Alzheimer’s disease

Question 16

what is the recurrence rate of kabuki syndrome?

Answer 16

1 in 30000

Question 17

what is the hallmark feature of kabuki syndrome?

Answer 17

eversion of the lateral 1/3rd of the lower eye lid

Question 18

what are the symtpoms of kabuki syndrome?

Answer 18

Hearing impairment
Cleft palate
Premature breast development
Persistent fetal finger pads (96%)
Learning difficulties
Congenital heart disease (50%)

Question 19

what is teh recurrence of Peutz-Jeghers syndrome?

Question 20

with peutz jeghers syndrome what can the Gastrointestinal polyps cause?

Answer 20

bleeding and polyps

Question 21

wich Peutz jeghers syndrome which maligancy are more likely to occur?

Answer 21

Colorectal
Gastric
Pancreatic
Breast
Ovarian

Question 22

what is Peutz-Jeghers syndrome?

Answer 22

rare cancer disorder that has disphormic features

Question 23

what is Treacher-Collins syndrome?

Answer 23

it is a condition that affects the development of bones and tissues in the face

Question 24

what is the recurrence rate of Treacher-Collins syndrome and what type of mutation is it?

Answer 24

1 in 50000 and its autosomal dominant

Question 25

what affect does Treacher-Collins syndrome have to the face?

Answer 25

underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia).
Cleft palate
Hearing impairment
coloboma
It’s also characterized by absent, small, or unusually formed ears.

Question 26

what is the recurrence of Waardenburg syndrome?

Answer 26

1 in 250000

Question 27

what are the symtpoms of Waardenburg syndrome?

Answer 27

Sensorineural hearing impairment
Iris heterochromia –>condition of different colored irises
Premature greying
White forelock
Areas of skin hypopigmentation –> loss of skin color
Congenital malformations (Hirschprungs/ VSD)

Question 28

what is Hirschprungs?

Answer 28

it is a condition of the large intestine that causes difficult passing stool

Question 29

what is the cause of williams syndrome and how often it occurs?

Answer 29

7q11 deletion –> 1 IN 20,000

Question 30

what are the symtpoms of williams syndrome?

Answer 30

Learning difficulties 
Unique personality characteristic and distinctive facial features 
Congenital heart disease
Problem with special awareness
Hypercalcaemia
Hypertension as well

Question 31

what congenital heart disease comes with Williams syndrome?

Answer 31

Supravalvular aortic stenosis –> is a narrowing of the large blood vessel that carries blood from the heart to the rest of the body (the aorta).
Peripheral pulmonary artery stenosis

Question 32

what facial features are prominant in Williams syndrome?

Answer 32

broad forehead, short nose with a broad tip, full cheeks and wide mouth
Dental problems–> smell, widely spaced teeth that are crooked or missing