Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

מבחן גמר בילדים > Genetics > Flashcards

Genetics Flashcards

1
Q

Chance of a sick CF pt for his phenotypically healty sister to be a carrier of CF ?

A

2/3
AA / Aa / Aa
aa- CF disease- the kid do not have
a- disease carrier

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
1
Q

CF heritance , and which chromosome?

A

AR
chromosome 7

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Which syndrome is a/w def. in alpha-L iduronidase

A

Hurler syndrome

dont confuse with hunter syn. - idoronate-2-sulfatase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What is the inheritance pattern of Hurler and Hunter syndrome

A

Hurler - AR
Hunter- X-linked ressecive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

3-month history of progressive shortness
of breath on exertion. She has a history of recurrent epistaxis since childhood

What is the disease and Heritance?

A

Hemorrhafic telangiectasia (osler-weber-rendu)
AD

High output- HF secondary to Pulmonary Atriovenous fistula

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

inhertiance oc Congenital Retinoblastoma

A

AD
w/o complete penetrance

also applied in BRCA genes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Which type of heritace we see in NF1

A

AD
with variable expressivity - everyone will have the diease but in a different level

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Which type of ilness is clasically menifest as a Germline mosaicism

A

Achondroplasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Which type of immunodeficeny present with Adenosine deaminase def.

A

SCID

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What is the two main types of SCID

A
  1. X-linked- gamma chain mut. or IL-2 receptor def.
  2. AR- adenosine de-aminase
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Primary cilliary dyskinesia

protein that defected
screening test

A

Dyanin
screening test- low nasal nitric oxide

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Ehlers danlos syndrome

which collagen is affected?

A

Type III (vascular type)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Alport syndrome which collagen is affected

A

Type IV- under the floor (Basment membrane)

also target by Goodpasture syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Osteogenesis imperfecta
Inheritance
Clinical presentation

A

Most common AD
clinical presentation:
BITE
Bones = multiple fracture
I (eye) = Blue sclera
Teeth = Dental imperfections
Ear = hearing loss

COL1A1 or COL1A2 genes&raquo_space; type I collagen

type **one = ** bONE , tendONE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Menkes disease
pathogenesis
defect protein

A

X-linked
Impair copper absorbationand transport defective protien ATP7A

risk for cerebral anyrysms

ATP7B = wilson disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Etiologys and prevalence of Down syndrome

A

90% non disjucntion
4% robertsonian translocation (mainly 14-21- always check for parents karyotype)
1-2% mosaicm

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

risk for reccurent pregnancy with down?

A

1% or mother age - whats higest

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Which type of leukemia is seen in down.
below age of 2 and above age of 3

A

age < 2 - AML
age > 3 - ALL

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

most common CHD in down?

A

AVSD (AV canal most common)

endocardial cushing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Which GI problems can we see in down syndrome

A

Deudonal atresia
hirshpung

also:
imperforated anus
annular pancreas

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Which blood test mush be made for a newborn with down?

A

TSH + free T4 level- congenital hypotyroidisem

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

how is down syndrome dgx in pregnancy

1st trimester
2nd trimester

A
  • 1st- b-HCG (high) , PAPP-A (low) + nuchal high (87%)
  • 2nd- b-HCG (high) , aFP (low), E3 (low) (70%) adding inhibin B (high) (80%)

combination of reasults from 1st and 2nd trimester = 95% senstivity

NIPT- 98% sensetivity. from week 10. only screening test and not Dgx.

Dgx test- Karyotype

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Which Heart abnormalites can be seen in Turner?

A

Bicuspid AV
MVP (also marfan)
Coractation of aorta
anyrsm of aorta

23
Q

Which kidney anomality is seen in turner

A

Horseshoe kisney

24
Q

Which syndrome is a/w reccurent Otitis media infection, primary ovarian insufficeny and red-green colour blindness?

A

Turner Syndrome

25
Q

Which Syndrome is a/w karyotype of 47XXY
high long arms, small testicale

A

klinefelter syndrome

50% present with gnycomastia

26
Q

most common cause of hypogonadism and infratility in males?

A

klinefelter syndrome

27
Q

Which clinical menefistation is a/w Beckwith-Wiedemann syndrome

A

Wilms tumors- most common

28
Q

A new born present with macrosomia, large tounge, omphelocele, hypoglycemia andmultiple tumors including wilms tumor

which syndrome is it?

A

Beckwith-Wiedemann syndrome

29
Q

Which syndrome is it?

A

Beckwith-Wiedemann syndrome

תסמונת גדילת יתר.
מתייציגים עם
wilms tumors- Abdominal US + aFP every 3 months

30
Q

Which syndrome is it?

A

Prader-willi syndrome
fhromosome 15, 11-13q microdeletion.
impringting disorder

31
Q

Which syndrome is X-linked dominance with mutation at MECP2 gene

A

Rett syndrome

only girls, boys not survive

32
Q

Which syndrome is a/w sterotype hand movments, regression at 6 month of age, scolicosis, aquire microchepaly, ataxia, apraxia, rigidity, sezures

A

Rett Syndrome

33
Q

Clinical presenation of MARFAN

A

**MARFAN
**MVP
Aortic dissection (Aortic root anyrsm&raquo_space; AR&raquo_space; dissection of aorta)
Retinal detachment
Fibrillin-1 mutation (AD)
Archandrodactylty
Near-sightedness
Scolicosis

34
Q

Which syndrome is a/w positive wrist sign and thumb sign

A

Marfan
chromosome 15&raquo_space; Fibrillin 1 gene (AD)

35
Q

Tx for marfan syndrome

A

B-blockers for inhibtion of aortic root growth
surgery of aortic diameter > 5 cm or rapid growth > 0.5 cm/ year

36
Q

Fragile X
which gene and what 3 Neculotide reapts?

A

FMR1 gene- CGG reaptes > 200 reapets

37
Q

Charge syndrome
what features is a/w

A

CHARGE
Coloboma
Heart defect
Atersia of the nasal choancae
Retadation of growth and development
Genitourinary abnormalities
Eart abnormalities

38
Q

Di-george syndrome

Which chromosomal abnormality
what is the clinical triad

A

22q11.2 microdeletion
Triad
1. Cyanotic heart disease- TOF, Truncus arteriosus
2. Hypoplastic thymus- immune def. (form of SCID)
3. Hypocalcemia

39
Q

Williams synd
Chromosomal abnormality
Clinical characteristics

A

7q11.23 microdeletion

Clinical
Hypercalcemia
Cocktail party personality
elfin faces with Stellate iris (star like)

Supravulvular aortic stenosis, HTN

40
Q

Which Cardiac abnormality is the most a/w Di-goerge syndrome

A

TOF

41
Q

NF1
chromosomal and gene mutation

Clinical meneficstion (skin)

A

Chr. 17&raquo_space; NF1 gene (TSG) = AD neurofibromin > Ras is unsuprresed and cell cycle is not inhibit

Clinical skin menefistation:
1. Cafe-au lait
2. inguinal frakling
3. lisch noduls
4. neurofibromas

42
Q

Which extra skin menefistation can be seen in NF1

A
  1. pheochromocytoma
  2. optic gliomas
  3. CNS tumors- meningiomas
  4. bone abnormalitys- like scoliosis
43
Q

NF2 , gene and chromosom

clinical menefistation

A

chr. 22 NF2 gene = merlin

clinical
1. Bilateral vestibular swhanommas (stain +S100)
2. Spinal tumors
3. cataracts- premature
4. meningiomas

also can damage CN V and VII

also have Cafe-au leit

44
Q

Which CNS tumor is most a/w NF1

what histological pathognemonic feature they have

A

optic gliomas

astrocytomas with rosenthal fibers (pathognemonic for gliomas)

45
Q

What is the cause of achondroplasia

A

GOF of FGFR3&raquo_space; leading to persistent inhibition of chondrocytes

most common cause of dwarfism

46
Q

Achondroplasia
inheritance and clinical presentaiton?

A

AD
clinical presentation:
short sature, regular trunk
frontal bossing
saddle nose

somtimes can present with conductive hearing loss

47
Q

osteogenesis imperfecta

inheritance
type 1
type 2
clinical presenation

A

AD
type 2- die within uterus or shortly after birth
type 1- less collagen 1 produce = less bone flexability = easly fracture

clinical presetation:
conduction hearing loss, multiple fractures, blue sclera, abnormal small teeth

48
Q

osteopetrosis
which blood reasults can be seen in the AR form and which in the AD?

A

AR- leuoplekia = mainly fatal
AD- pancytopenia and extramedullar hematopoesis

49
Q

osteopetrosis
what can we see on AD in CXR?

and which bones are more sustability for fractures?

A

Bone within bone

bones with Higer risk:
1. Pelvis
2. spine
3. skull

Condense uneven bone

50
Q

which syndromes are a/w congenital hyperinsulinism?

A

Turner
Beckwith wiedemann

related to hyperplasia of beta- cells

Tx
glucose and Diazoxide (inhibit insulin realase)
2nd line- somatosratin
definite- pancrease reascection

51
Q

What beta-blockers can lead if taken in pregnanct?

A

hypoglycemia in newborn and IUGR

52
Q

Which metabolic disorder is a/q high Dicabrocylic acid in urine with high FFA and no ketones

A

Def. in Beta-oxidation
mainly medium chain def. = most common and possbile in 2yrs of age

Tx- avoid fasting

53
Q

Which metabolid disease is a/w

bi-lateral cataract
hepatomegalia
FTT
hypoglycemia
risk for sepsis from E-coli
early ESRD

A

Galactose 1 phosphoate uridyl transferase def.

AR

can see in breasfeeding child

אין יכולת לפרק גלקטוז

54
Q

Galactose 1 phosphoate uridyl transferase def.

Dgx
Tx

A

Dgx- enzyme activity in RBS

Tx- no breastfeeding, formula with soy / w/o lactose

55
Q
A

מבחן גמר בילדים (23 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions