More Genetics Flashcards
TCOF1 gene and the following characterisitcs:
-abnormal development of the treacle protein
Eyelid colobomas Sparse eyelashes microtia (small ears) microretrognathia choanal atreasia microtia AD
Treachers Collins
Can also be in the mutations of POLR1 and POLR1 MUTATIONS (but ony 8%)
What is in pierre robins sequence ? (4)
Micronathia
abnormal airway
glossoptosis
cleft palate
Stickler syndrome: if patient has the above and msk (skeletal or myopia)
Goldenhar syndrome ?
- facial asymmetry
- microtia
- preauricular tags
- micropthalmia
What is an AD condition with short extremities, involving the FGF3 gene ?
How do you monitor and do anticipatory surveillance ?
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
What is the monitoring for BWS?
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
What syndrome is a deletion syndrome, higher risk of blastoma, Wilms tumor , cryptorchidism , and intellectual disability
WAGR Wilms turmor Anindra Genital abnormalities Retardation
What is the health surviellance for prader willi ?
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 ?
TREACHER COLLINS: problem in the treacle protein
think all things small (in facial development_
Features include (6)
“Treacher Collins is cc small”
Coloboma, chonal atresia
\+ small (mouth) (micronathia) \+small ears ( microtia) \+small chin ( retromicronathia) \+small eyes \+small amount of eye lashes
Name at least 3 conditions with cleft lip and palate:
1) Di George
2) Pierre Robins sequrence
3) Goldenhar syndrome
4) Patau T. 13
micronathia, facial microplasia, cleft lip and palate, glossoptosis ( downward displacement of the tongue or malformation of the palate and airway obstruction
Pierre robins sequence
with SOX9 mutation
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
ANGELMANs SYNDROME
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
WILLIAMS SYNDROME
Exon skipping is often associated with:
a) non-sens mutations
b) regulatory mutations
c) RNA processing
c
Legion syndrome should be considered in following ddx of which syndrome
Also known as mosaic legion syndrome
The precence of 2 or more cell lines from different zygotes are called
a) chimerism
b) mosaicism
chimerism
What is the most common CF mutation ?
delta 508
Male to male transmission is indicative of likely what form of
auto dominant
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
INCONTENETIA PIGMENTI
What test to confirm PRADER WILLI ?
methylation
What are two syndromes associated with leukocoria ?
Cotes
Nori
Sturge Webber is most associated with ________
Cardiac rhabdomyoma ?
Majorly if Infantile spasms are associated with syndrome ?
Tuberous sclerosis
Mec p 2 deletion refers to Retts
What are 5 characteristics ?
Seizures
Dev regression
Microcephalic
What is phaces ?
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
