Genetics

Question 1

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

Answer 1

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

Question 1

CF heritance , and which chromosome?

Answer 1

AR
chromosome 7

Question 2

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

Answer 2

Hurler syndrome

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

Question 3

What is the inheritance pattern of Hurler and Hunter syndrome

Answer 3

Hurler - AR
Hunter- X-linked ressecive

Question 4

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?

Answer 4

Hemorrhafic telangiectasia (osler-weber-rendu)
AD

High output- HF secondary to Pulmonary Atriovenous fistula

Question 5

inhertiance oc Congenital Retinoblastoma

Answer 5

AD
w/o complete penetrance

also applied in BRCA genes

Question 6

Which type of heritace we see in NF1

Answer 6

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

Question 7

Which type of ilness is clasically menifest as a Germline mosaicism

Answer 7

Achondroplasia

Question 8

Which type of immunodeficeny present with Adenosine deaminase def.

Answer 8

SCID

Question 9

What is the two main types of SCID

Answer 9

1. X-linked- gamma chain mut. or IL-2 receptor def.
2. AR- adenosine de-aminase

Question 10

Primary cilliary dyskinesia

protein that defected
screening test

Answer 10

Dyanin
screening test- low nasal nitric oxide

Question 11

Ehlers danlos syndrome

which collagen is affected?

Answer 11

Type III (vascular type)

Question 12

Alport syndrome which collagen is affected

Answer 12

Type IV- under the floor (Basment membrane)

also target by Goodpasture syndrome

Question 13

Osteogenesis imperfecta
Inheritance
Clinical presentation

Answer 13

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

Question 14

Menkes disease
pathogenesis
defect protein

Answer 14

X-linked
Impair copper absorbationand transport defective protien ATP7A

risk for cerebral anyrysms

ATP7B = wilson disease

Question 15

Etiologys and prevalence of Down syndrome

Answer 15

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

Question 16

risk for reccurent pregnancy with down?

Answer 16

1% or mother age - whats higest

Question 17

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

Answer 17

age < 2 - AML
age > 3 - ALL

Question 18

most common CHD in down?

Answer 18

AVSD (AV canal most common)

endocardial cushing

Question 19

Which GI problems can we see in down syndrome

Answer 19

Deudonal atresia
hirshpung

also:
imperforated anus
annular pancreas

Question 20

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

Answer 20

TSH + free T4 level- congenital hypotyroidisem

Question 21

how is down syndrome dgx in pregnancy

1st trimester
2nd trimester

Answer 21

• 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

Question 22

Which Heart abnormalites can be seen in Turner?

Answer 22

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

Question 23

Which kidney anomality is seen in turner

Answer 23

Horseshoe kisney

Question 24

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

Answer 24

Turner Syndrome

Question 25

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

Answer 25

klinefelter syndrome ## Footnote 50% present with gnycomastia

Question 26

**most common cause of hypogonadism and infratility in males?**

Answer 26

klinefelter syndrome

Question 27

Which clinical menefistation is a/w Beckwith-Wiedemann syndrome

Answer 27

**Wilms tumors- most common**

Question 28

A new born present with macrosomia, large tounge, omphelocele, hypoglycemia andmultiple tumors including wilms tumor which syndrome is it?

Answer 28

Beckwith-Wiedemann syndrome

Question 29

Which syndrome is it?

Answer 29

Beckwith-Wiedemann syndrome ## Footnote תסמונת גדילת יתר. מתייציגים עם wilms tumors- Abdominal US + aFP every 3 months

Question 30

Which syndrome is it?

Answer 30

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

Question 31

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

Answer 31

Rett syndrome | only girls, boys not survive

Question 32

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

Answer 32

Rett Syndrome

Question 33

Clinical presenation of MARFAN

Answer 33

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

Question 34

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

Answer 34

Marfan chromosome 15 >> Fibrillin 1 gene (AD)

Question 35

Tx for marfan syndrome

Answer 35

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

Question 36

Fragile X which gene and what 3 Neculotide reapts?

Answer 36

FMR1 gene- CGG reaptes > 200 reapets

Question 37

Charge syndrome what features is a/w

Answer 37

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

Question 38

Di-george syndrome Which chromosomal abnormality what is the clinical triad

Answer 38

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

Question 39

Williams synd Chromosomal abnormality Clinical characteristics

Answer 39

7q11.23 microdeletion **Clinical** Hypercalcemia Cocktail party personality elfin faces with Stellate iris (star like) Supravulvular aortic stenosis, HTN

Question 40

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

Answer 40

TOF

Question 41

NF1 chromosomal and gene mutation Clinical meneficstion (skin)

Answer 41

Chr. 17 >> 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

Question 42

Which extra skin menefistation can be seen in NF1

Answer 42

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

Question 43

NF2 , gene and chromosom clinical menefistation

Answer 43

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 ## Footnote also have Cafe-au leit

Question 44

Which CNS tumor is most a/w NF1 what histological pathognemonic feature they have

Answer 44

**optic gliomas** astrocytomas with rosenthal fibers (pathognemonic for gliomas)

Question 45

What is the cause of achondroplasia

Answer 45

GOF of FGFR3 >> leading to persistent inhibition of chondrocytes most common cause of dwarfism

Question 46

Achondroplasia inheritance and clinical presentaiton?

Answer 46

AD clinical presentation: short sature, regular trunk frontal bossing saddle nose | somtimes can present with conductive hearing loss

Question 47

osteogenesis imperfecta inheritance type 1 type 2 clinical presenation

Answer 47

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

Question 48

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

Answer 48

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

Question 49

osteopetrosis what can we see on AD in CXR? | and which bones are more sustability for fractures?

Answer 49

Bone within bone bones with Higer risk: 1. Pelvis 2. spine 3. skull ## Footnote Condense uneven bone

Question 50

which syndromes are a/w congenital hyperinsulinism?

Answer 50

Turner Beckwith wiedemann related to hyperplasia of beta- cells **Tx** glucose and Diazoxide (inhibit insulin realase) 2nd line- somatosratin definite- pancrease reascection

Question 51

What beta-blockers can lead if taken in pregnanct?

Answer 51

hypoglycemia in newborn and IUGR

Question 52

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

Answer 52

Def. in Beta-oxidation mainly medium chain def. = most common and possbile in 2yrs of age ## Footnote Tx- avoid fasting

Question 53

Which metabolid disease is a/w bi-lateral cataract hepatomegalia FTT hypoglycemia risk for sepsis from E-coli early ESRD

Answer 53

Galactose 1 phosphoate uridyl transferase def. AR can see in breasfeeding child ## Footnote אין יכולת לפרק גלקטוז

Question 54

Galactose 1 phosphoate uridyl transferase def. Dgx Tx

Answer 54

Dgx- enzyme activity in RBS Tx- no breastfeeding, formula with soy / w/o lactose