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juhee lee
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Decks in this class (22)
Genetics Basics
Pleiotropic 1,
Locus heterogeneity allelic heter...,
Epistasis 3
15
cards
Autosomal
Facial characteristics of trisomy...,
Hand toe characteristics of down ...,
Heart defects 3 and cardiac probl...
28
cards
Sex Chromosome
Most common sex chromosome abnorm...,
Which sex aneuploidy that does no...,
Endocrine abnormality for turner 2 3
16
cards
Deletion/Duplication
Characteristics of 5p deletion cr...,
Genetic cause of wolf hirschhorn ...,
Name of the syndrome with greek w...
26
cards
Trinucleotide Repeat
Examples of trinucleotide repeat ...,
Gene location trinucleotide repea...,
Clinical muscular features of myo...
11
cards
Chromosomal instabilities
Facial characteristics of corneli...,
Body characteristics of cornelia ...,
Developmental neurological sympto...
11
cards
Methylation
Genetic causes of silver russell ...,
Characteristics of silver russell...,
Prader willi syndrome treatment i...
11
cards
Rasopathies
Most common heart defect of noona...,
Physical characteristics of noona...,
Anomalies symptoms of noonan synd...
9
cards
Congenital anomalies
Recurrence risks for most isolate...,
Percentage of renal anomalies wit...,
Polydactyly least associated with...
21
cards
Craniofacial
Usual correction ages for cleft l...,
When positional plagiocephaly sto...,
Characteristics of goldenhar synd...
28
cards
Skeletal Dysplasia
Most common skeletal dysplasia 1,
Achondroplasia heritance pattern ...,
Facial characteristics of achondr...
25
cards
Overgrowth
Cardinal symptoms of sotos syndro...,
Diagnosis 1 neuro cranial mri ct ...,
Sotos syndrome most common inheri...
6
cards
Bone Fragility
Distinguishing characteristics of...,
Types of col1a1 2 osteogenesis im...,
Most common type of col1a1 2 oste...
8
cards
Connective Tissue
Most causes of death for marfan 1,
Major criteria of ghent criteria 5 2,
Orthopedic signs of revised ghent...
12
cards
Neurocutaneous
Clinical criteria for neurofibrom...,
Positive cafe au lait spot sizes 2,
Bony changes of neurofibromatosis...
12
cards
Neurodevelopmental
Most common inherited intellectua...,
Percentage of chromosomal abnorma...,
Percentage of chromosomal abnorma...
9
cards
Neuromuscular
Characteristics of type 0 spinal ...,
Types of spinal muscle atrophy 4 2,
Characteristics of type 1 spinal ...
8
cards
Cardiogenetics
Which syndrome st segment abnorma...,
Brugada syndrome most common gene 2
2
cards
GI/Endo/Kidney
Which syndrome obesity retinitis ...,
Which syndrome jag1 95 or notch2 2 2,
Pattern of inheritance of alagill...
9
cards
Prenatal
Down vs turner vs edwards vs patau 1,
Down vs turner vs edwards vs patau 2,
Down vs turner vs edwards vs patau 3
3
cards
Cancer
Cancers other than breast cancer ...,
Colon cancer risk for familial ad...,
Which syndrome adenomatous polypo...
8
cards
Mitochondrial
How many mitochondrial genes 1,
How many copies of mtdna in each ...,
Three classic phenotypes of mtdna...
12
cards
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2. Genetics
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