Genetics Flashcards
Chance of a sick CF pt for his phenotypically healty sister to be a carrier of CF ?
2/3
AA / Aa / Aa
aa- CF disease- the kid do not have
a- disease carrier
CF heritance , and which chromosome?
AR
chromosome 7
Which syndrome is a/w def. in alpha-L iduronidase
Hurler syndrome
dont confuse with hunter syn. - idoronate-2-sulfatase
What is the inheritance pattern of Hurler and Hunter syndrome
Hurler - AR
Hunter- X-linked ressecive
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?
Hemorrhafic telangiectasia (osler-weber-rendu)
AD
High output- HF secondary to Pulmonary Atriovenous fistula
inhertiance oc Congenital Retinoblastoma
AD
w/o complete penetrance
also applied in BRCA genes
Which type of heritace we see in NF1
AD
with variable expressivity - everyone will have the diease but in a different level
Which type of ilness is clasically menifest as a Germline mosaicism
Achondroplasia
Which type of immunodeficeny present with Adenosine deaminase def.
SCID
What is the two main types of SCID
- X-linked- gamma chain mut. or IL-2 receptor def.
- AR- adenosine de-aminase
Primary cilliary dyskinesia
protein that defected
screening test
Dyanin
screening test- low nasal nitric oxide
Ehlers danlos syndrome
which collagen is affected?
Type III (vascular type)
Alport syndrome which collagen is affected
Type IV- under the floor (Basment membrane)
also target by Goodpasture syndrome
Osteogenesis imperfecta
Inheritance
Clinical presentation
Most common AD
clinical presentation:
BITE
Bones = multiple fracture
I (eye) = Blue sclera
Teeth = Dental imperfections
Ear = hearing loss
COL1A1 or COL1A2 genes»_space; type I collagen
type **one = ** bONE , tendONE
Menkes disease
pathogenesis
defect protein
X-linked
Impair copper absorbationand transport defective protien ATP7A
risk for cerebral anyrysms
ATP7B = wilson disease
Etiologys and prevalence of Down syndrome
90% non disjucntion
4% robertsonian translocation (mainly 14-21- always check for parents karyotype)
1-2% mosaicm
risk for reccurent pregnancy with down?
1% or mother age - whats higest
Which type of leukemia is seen in down.
below age of 2 and above age of 3
age < 2 - AML
age > 3 - ALL
most common CHD in down?
AVSD (AV canal most common)
endocardial cushing
Which GI problems can we see in down syndrome
Deudonal atresia
hirshpung
also:
imperforated anus
annular pancreas
Which blood test mush be made for a newborn with down?
TSH + free T4 level- congenital hypotyroidisem
how is down syndrome dgx in pregnancy
1st trimester
2nd trimester
- 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
Which Heart abnormalites can be seen in Turner?
Bicuspid AV
MVP (also marfan)
Coractation of aorta
anyrsm of aorta
Which kidney anomality is seen in turner
Horseshoe kisney
Which syndrome is a/w reccurent Otitis media infection, primary ovarian insufficeny and red-green colour blindness?
Turner Syndrome
Which Syndrome is a/w karyotype of 47XXY
high long arms, small testicale
klinefelter syndrome
50% present with gnycomastia
most common cause of hypogonadism and infratility in males?
klinefelter syndrome
Which clinical menefistation is a/w Beckwith-Wiedemann syndrome
Wilms tumors- most common
A new born present with macrosomia, large tounge, omphelocele, hypoglycemia andmultiple tumors including wilms tumor
which syndrome is it?
Beckwith-Wiedemann syndrome
Which syndrome is it?
Beckwith-Wiedemann syndrome
תסמונת גדילת יתר.
מתייציגים עם
wilms tumors- Abdominal US + aFP every 3 months
Which syndrome is it?
Prader-willi syndrome
fhromosome 15, 11-13q microdeletion.
impringting disorder
Which syndrome is X-linked dominance with mutation at MECP2 gene
Rett syndrome
only girls, boys not survive
Which syndrome is a/w sterotype hand movments, regression at 6 month of age, scolicosis, aquire microchepaly, ataxia, apraxia, rigidity, sezures
Rett Syndrome
Clinical presenation of MARFAN
**MARFAN
**MVP
Aortic dissection (Aortic root anyrsm»_space; AR»_space; dissection of aorta)
Retinal detachment
Fibrillin-1 mutation (AD)
Archandrodactylty
Near-sightedness
Scolicosis
Which syndrome is a/w positive wrist sign and thumb sign
Marfan
chromosome 15»_space; Fibrillin 1 gene (AD)
Tx for marfan syndrome
B-blockers for inhibtion of aortic root growth
surgery of aortic diameter > 5 cm or rapid growth > 0.5 cm/ year
Fragile X
which gene and what 3 Neculotide reapts?
FMR1 gene- CGG reaptes > 200 reapets
Charge syndrome
what features is a/w
CHARGE
Coloboma
Heart defect
Atersia of the nasal choancae
Retadation of growth and development
Genitourinary abnormalities
Eart abnormalities
Di-george syndrome
Which chromosomal abnormality
what is the clinical triad
22q11.2 microdeletion
Triad
1. Cyanotic heart disease- TOF, Truncus arteriosus
2. Hypoplastic thymus- immune def. (form of SCID)
3. Hypocalcemia
Williams synd
Chromosomal abnormality
Clinical characteristics
7q11.23 microdeletion
Clinical
Hypercalcemia
Cocktail party personality
elfin faces with Stellate iris (star like)
Supravulvular aortic stenosis, HTN
Which Cardiac abnormality is the most a/w Di-goerge syndrome
TOF
NF1
chromosomal and gene mutation
Clinical meneficstion (skin)
Chr. 17»_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
Which extra skin menefistation can be seen in NF1
- pheochromocytoma
- optic gliomas
- CNS tumors- meningiomas
- bone abnormalitys- like scoliosis
NF2 , gene and chromosom
clinical menefistation
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
Which CNS tumor is most a/w NF1
what histological pathognemonic feature they have
optic gliomas
astrocytomas with rosenthal fibers (pathognemonic for gliomas)
What is the cause of achondroplasia
GOF of FGFR3»_space; leading to persistent inhibition of chondrocytes
most common cause of dwarfism
Achondroplasia
inheritance and clinical presentaiton?
AD
clinical presentation:
short sature, regular trunk
frontal bossing
saddle nose
somtimes can present with conductive hearing loss
osteogenesis imperfecta
inheritance
type 1
type 2
clinical presenation
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
osteopetrosis
which blood reasults can be seen in the AR form and which in the AD?
AR- leuoplekia = mainly fatal
AD- pancytopenia and extramedullar hematopoesis
osteopetrosis
what can we see on AD in CXR?
and which bones are more sustability for fractures?
Bone within bone
bones with Higer risk:
1. Pelvis
2. spine
3. skull
Condense uneven bone
which syndromes are a/w congenital hyperinsulinism?
Turner
Beckwith wiedemann
related to hyperplasia of beta- cells
Tx
glucose and Diazoxide (inhibit insulin realase)
2nd line- somatosratin
definite- pancrease reascection
What beta-blockers can lead if taken in pregnanct?
hypoglycemia in newborn and IUGR
Which metabolic disorder is a/q high Dicabrocylic acid in urine with high FFA and no ketones
Def. in Beta-oxidation
mainly medium chain def. = most common and possbile in 2yrs of age
Tx- avoid fasting
Which metabolid disease is a/w
bi-lateral cataract
hepatomegalia
FTT
hypoglycemia
risk for sepsis from E-coli
early ESRD
Galactose 1 phosphoate uridyl transferase def.
AR
can see in breasfeeding child
אין יכולת לפרק גלקטוז
Galactose 1 phosphoate uridyl transferase def.
Dgx
Tx
Dgx- enzyme activity in RBS
Tx- no breastfeeding, formula with soy / w/o lactose
