Genetic disorders

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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
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