Genetic disorders
High Yield
Notes
by
AfraTafreeh.com
Pathology
Table of Contents
Chromosomal Deletion Syndromes 1
Cri DU Chat Syndrome 2
Williams Syndrome 3
Connective Tissue Disorders 5
Overview 5
Alport Syndrome 6
Ehler-Danlos Syndrome 7
Marfan Syndrome 9
DNA Replication and Repair Disorders 11
Bloom Syndrome 11
Li-Fraumeni Syndrome 12
Xeroderma Pigmentosum 14
Genetic Mutations 15
Alagille Syndrome 16
Mccune-Albright Syndrome 17
Primary Ciliary Dyskinesia 19
Teacher Collins Syndrome 20
Imprinting Disorders 22
Angelman Syndrome 23
Beckwith-Wiedmann Syndrome 24
Prader-Willi Syndrome 25
Sex Chromosome Disorders 26
Klinefelter’s Syndrome 26
Turner Syndrome 28
Trinucleotide repeat expansion diseases 29
Fragile X Syndromes 29
Huntington’s Disease 32
Trisomies 34
Down Syndrome 34
Edwards Syndrome 36
Table of Contents
Patau Syndrome 37
Screening for Trisomies 39
1
afratafreeh.com exclusive
2
3
4
5
6
7
8
9
afratafreeh.com exclusive
10
11
12
13
14
15
16
17
18
19
afratafreeh.com exclusive
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39