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juhee lee
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Decks in this class (22)
Genetics Basics
Definition of pleiotropic,
Locus heterogeneityallelic hetero...,
Gen basic epistasis
15
cards
Autosomal
Facial characteristics of down sy...,
Body characteristics of down synd...,
Heart defects of down syndrome or...
28
cards
Sex Chromosome
Most common sex chromosome abnorm...,
1 aneuploidy that does not correl...,
Endocrine abnormality for turner
16
cards
Deletion/Duplication
Characteristics of cri du chat sy...,
Genetic cause of wolf hirschhorn ...,
Characteristics of wolf hirschhor...
28
cards
Trinucleotide Repeat
Examples of trinucleotide repeat ...,
Trinucleotide repeat for myotonic...,
Clinical muscular features of myo...
11
cards
Chromosomal instabilities
Facial characteristics of corneli...,
Body characteristics of cornelia ...,
Symptoms of
11
cards
Methylation
Genetic causes of russell silver ...,
Characteristics of,
Prader willi syndrome treatment i...
11
cards
Rasopathies
Most common heart defect of noona...,
Characteristics of noonan syndrome,
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,
Achondroplasia heritance pattern ...,
Facial characteristics of achondr...
25
cards
Overgrowth
Cardinal symptoms of sotos syndro...,
Major features of sotos syndrome 5,
Genetic cause of
6
cards
Bone Fragility
Distinguishing characteristics of...,
Type 1 of,
Most common type of
8
cards
Connective Tissue
Most causes of death for marfan,
Major criteria of ghent,
Orthopedic signs of revised ghent...
12
cards
Neurocutaneous
Clinical criteria for nf1 7,
Positive cafe au lait spot sizes,
Bony changes of nf1 3
12
cards
Neurodevelopmental
Most common inherited intellectua...,
Percentage of genetic cause in mi...,
Percentage of chromosomal abnorma...
9
cards
Neuromuscular
Types of spinal muscle atrophy 4 ...,
Types of spinal muscle atrophy 4,
Characteristics of type 1 spinal ...
8
cards
Cardiogenetics
Gen card which syndrome st segmen...,
Brugada syndromemost common gene
2
cards
GI/Endo/Kidney
Gene endo obesity which syndrome ...,
20p12 deletion causes,
Pattern of inheritance of alagill...
9
cards
Prenatal
Quad screening results of down sy...,
Quad screening down vs turner vs ...,
Low afplow b hcghigh estradiolhig...
3
cards
Cancer
Cancers other than breast cancer ...,
Colon cancer risk for familial ad...,
Apc gene which disease adenomatou...
8
cards
Mitochondrial
How many mitochondrial genes,
How many copies of mtdna in each ...,
Three classic phenotypes of mtdna...
12
cards
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2. Genetics
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