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Clinical consequences of chromosomes disorders - Coggle Diagram
Clinical consequences of chromosomes disorders
Chromosome Structure and Abnormalities
Chromosome structure
Chromosomal abnormalities
Consequences of chromosomal abnormalities
Rules
Deletion vs duplication
Consequences
Chromosomal analysis techniques
Rule
Array Comparative Genome Hybridization
QF-PCR
Karyotype
FISH
Antenatal testing
Translocations and mosaicism
Translocations
Types
Diagnostics
Reciprocal translocations
Robertsonian translocations
Mosaicism
Chromosomal mosaicism
Mosaic trisomy 8
Pathology
Trisomy 21 – Down Syndrome
Trisomy 18 – Edward syndrome
Epidemiology
Antenatal presentations
Postnantal presentations
Genetic changes leading to ES
Trisomy 13 – Patau syndrome
Epidemiology
Antenatal presentations
Post-natal presentations
Genetic changes leading to PS
45, X – Turner syndrome
Epidemiology
Antenatal presentations
Postnatal presentations
Genetic changes leading to TS
1 more item...
47, XXY – Klinefelter syndrome
Epidemiology
Diagnosis
Presentations
2 more items...
47, XYY syndrome
Epidemiology
Presentations
2 more items...
22q11.2 deletion syndrome – DiGeorge syndrome
Epidemiology
2 more items...
7q11 deletion
1 more item...
Epidemiology
Features of Down syndrome
Diagnosis
Genetic changes leading to DS
