More Genetics

Question 1

TCOF1 gene and the following characterisitcs:
-abnormal development of the treacle protein

Eyelid colobomas
Sparse eyelashes 
microtia (small ears)
microretrognathia
choanal atreasia 
microtia
AD

Answer 1

Treachers Collins

Can also be in the mutations of POLR1 and POLR1 MUTATIONS (but ony 8%)

Question 2

What is in pierre robins sequence ? (4)

Answer 2

Micronathia
abnormal airway
glossoptosis
cleft palate

Stickler syndrome: if patient has the above and msk (skeletal or myopia)

Question 3

Goldenhar syndrome ?

Answer 3

• facial asymmetry
• microtia
• preauricular tags
• micropthalmia

Question 4

What is an AD condition with short extremities, involving the FGF3 gene ?
How do you monitor and do anticipatory surveillance ?

Answer 4

Achondroplasia

Monitor

1) at risk for foramen ovale narrowing - ie. hydrocephalus—> monitor with headcircumference
2) Hearing test yearly
3) CT - depending on the symptoms

At risk
(symptom management)
-boney abnormalities ie. spinal stenosis

Question 5

What is the monitoring for BWS?

Answer 5

1) Abdo US ( including renal bladder ultrasound) Q1 until 8 years of age
2) every 3 months 4 years of age (AfB)
3) Glucose at birth

Question 6

What syndrome is a deletion syndrome, higher risk of blastoma, Wilms tumor , cryptorchidism , and intellectual disability

Answer 6

WAGR
Wilms turmor 
Anindra
Genital abnormalities
Retardation

Question 7

What is the health surviellance for prader willi ?

Answer 7

1) CNS: screen for mood disorder, behavior, asd, ahdh
- hypotonia - thus rehab
- pan-hypopit thus tsh at 5, then yearly
ie. gh, tsh, cortisol, testosterone
- hearing - o, and every years or prn

Development - aid in school

2) Diet - dietician
3) ?resp - risk of OSA, screen and sleep study
4) short stature - gh ?

Question 8

TREACHER COLLINS: problem in the treacle protein
think all things small (in facial development_

Features include (6)

Answer 8

“Treacher Collins is cc small”

Coloboma, chonal atresia

\+ small (mouth) (micronathia)
\+small ears ( microtia) 
\+small chin ( retromicronathia) 
\+small eyes 
\+small amount of eye lashes

Question 9

Name at least 3 conditions with cleft lip and palate:

Answer 9

1) Di George
2) Pierre Robins sequrence
3) Goldenhar syndrome
4) Patau T. 13

Question 10

micronathia, facial microplasia, cleft lip and palate, glossoptosis ( downward displacement of the tongue or malformation of the palate and airway obstruction

Answer 10

Pierre robins sequence

with SOX9 mutation

Question 11

DELETION syndrome with hypopigmentation, wide spaced teeth, think albinism including retinal albinism

several CNS possible complications ie. seizures, GDD (but very verbal), hypotonia, scoliosis
and microcephaly

Answer 11

ANGELMANs SYNDROME

Question 12

Which syndrome is the following

• chromosome 7 (thus requiring CGH)
• Happy/friendly
• Delayed receptive language
• Cardiac ( supravalvular aortic stenosis, pulmonary stenosis)
• Renal artery stenosis and thus hypertension

Answer 12

WILLIAMS SYNDROME

Question 13

Exon skipping is often associated with:

a) non-sens mutations
b) regulatory mutations
c) RNA processing

Answer 13

c

Question 14

Legion syndrome should be considered in following ddx of which syndrome

Answer 14

Also known as mosaic legion syndrome

Question 15

The precence of 2 or more cell lines from different zygotes are called

a) chimerism
b) mosaicism

Answer 15

chimerism

Question 16

What is the most common CF mutation ?

Answer 16

delta 508

Question 17

Male to male transmission is indicative of likely what form of

Answer 17

auto dominant

Question 18

Dark skin, eye, teeth condition and the following is X LINKED RECESSIVE AND is _______
Teeth
-Abnormalities in more than 80% of patients
-Delay in eruption of teeth (both baby and adult teeth affected)
Nails
-May be involved in up to 40% of patients
Nails may be ridged, pitted, thickened or completely disfigured.Usually, all or multiple fingernails and toenails are affected
Hair
Minor hair abnormalities in up to 50% of patients

Eye defects occur in 20-35% of patients
Typically occur before age 5
Can cause blindness but may be treated if recognised early enough
Central nervous system

Neurological complications may occur in up to 30% of patients
The most common complication is seizures, GDD, usually develop within the first few weeks of life

Answer 18

INCONTENETIA PIGMENTI

Question 19

What test to confirm PRADER WILLI ?

Answer 19

methylation

Question 20

What are two syndromes associated with leukocoria ?

Answer 20

Cotes

Nori

Question 21

Sturge Webber is most associated with ________

Answer 21

Cardiac rhabdomyoma ?

Question 22

Majorly if Infantile spasms are associated with syndrome ?

Answer 22

Tuberous sclerosis

Question 23

Mec p 2 deletion refers to Retts

What are 5 characteristics ?

Answer 23

Seizures
Dev regression
Microcephalic

Question 24

What is phaces ?

Answer 24

Posterior cranial fossa (brain) abnormalities,
Hemangiomas,
Arterial abnormalities,
Coarctation (a narrowing of the aorta) and cardiac
abnormalities,
Eye abnormalities, and
Sternal clefts (a split in the breastbone).
Affects girls more than boys