DISEASES TO REMEMBER Flashcards
Huntington’s
Type: Autosomal dominant
Description: Degenerative brain disorder. Onset age 30-50.
Familial hypercholesterolemia
Type: Autosomal dominant
Description
Multiple endocrine neoplasia
Type: Autosomal dominant
Description: Featuring tumors of endocrine glands, each with its own characteristic pattern
Tay sachs
Type: Autosomal recessive
Description: Lack of enzyme hexosaminidase, which breaks down fatty acids in nerve tissues
Cystic fibrosis
Type: Autosomal recessive
Description: Defect in the transport of calcium ions across epithelial
Sickle cell disease
Type: Autosomal recessive
Description:
Vitamin 𝐷 resistance
Type: linked recessive X
Description: receptors of this vitamin are resistant
Hemophilia
Type: linked recessive X
Description: lack of clotting factor 8 (hemophilia 𝐴), or clotting factor 9 (hemophilia 𝐵)
Color blindness
Type: linked recessive X
Description:
Duchene
Type: linked recessive X
Description:
Rhett
Type: linked dominant X
Description: Symptoms include problems with language, coordination, and repetitive movements. Often there is slower growth, problems walking, and a smaller head size.
Rickets
Type: linked dominant X
Description: deficiency of the receptor of vitamin 𝐷
Down syndrome
Type: Trisomy 21
Description: These patients usually suffer mild to moderate mental retardation. They usually have a characteristic facial appearance, and an enhanced susceptibility to heart disease and Alzheimer’s
Edwards syndrom
Type: Trisomy 18
Description:
Patau syndrome
Type: Trisomy 13
Description:
Klienfelter’s syndrome
Type: Trisomy 𝑋𝑋𝑌
Description: These are man that suffer from disorders in secondary sexual features. In addition, they sometimes suffer from slight mental retardation
Syndrom XYY
Type: Trisomy 𝑋𝑌𝑌
Description: Men usually more aggressive, suffer from severe acne, increased risk of learning disabilities, delayed development of speech and language skills.
syndrom XXX
Type: Trisomy 𝑋𝑋𝑋
Description: Causes no unusual physical features. Most women have normal sexual development and are able to conceive. They have increased risk of learning disabilities, delayed development of speech and language skills
Turner syndrome
Type: Monosomy 𝑋𝑂
Description: These women have a characteristic appearance, and they tend to suffer from cardiac and renal disorders
