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Patho Unit7 Genetic Disorder & Growth Disorder Cheat Sheet (DRAFT) by


This is a draft cheat sheet. It is a work in progress and is not finished yet.

Mendelian Disorder

1.Auto­somal Dominant
2.Auto­somal Resessive
3. X-linked Recessive
- Both sex involved
- Both sex involved
- Males only
- Genera­tions not skipped
- Genera­tions skipped

Single Gene Disorder

Enzyme Defects
Structure protein defects
1. Accumu­lation of substrate
1. Marfan Syndrome
2. Lack of product
2. Ethler­-Danlos Syndromes
3. Failure to inactivate a protein which cause damage
Receptor protein defect
- Familial hyperc­hol­est­ero­lemia (AD)

Mendelian Disorder

Autosomal Dominant
Autosomal Recessive
X-link recessive
- Both sex involved
- Both sex involved
- Males only
- Genera­tnios not skipped
- Generation skipped
- Generation skipping doesn't matter

Chromo­somal Disorder

- Chromo­some, genome mutation
Down Syndrome
- Meiotic nondis­jun­ction of chromosome 21
Klinef­elter Syndrome
- >=2 Xchrom­osome/ 1>= Y chromosome
- 47,XXY
- Testicular abnorm­ality
Turner syndrome
- Comple/ partial monosomy of X chromosome in females
- Neck webbing, heart defects