Color Blindness:

Color blindness is a genetic condition affecting color perception.

Genes for color vision are located on the X chromosome.

Normal vision (XNXN), carrier (XNXn), and color blind (XnY) genotypes.

Carriers are typically females with one normal and one mutated allele.

Color blindness is more common in males.

Prenatal diagnosis is possible.

Sickle Cell Anemia:

Sickle cell anemia is a genetic disorder affecting hemoglobin.

Autosomal recessive inheritance: HbA/HbA (normal), HbS/HbS (affected), HbA/HbS (carrier).

Mutation in the HBB gene leads to abnormal hemoglobin (HbS).

Heterozygous advantage in malaria-endemic regions.

Genetic variation within populations.

Selective advantage and historical context.

Prevalence varies by region and exposure to malaria.

Phenylketonuria (PKU):

PKU is a genetic disorder affecting phenylalanine metabolism.

Autosomal recessive inheritance.

Mutation in the PAH gene results in phenylalanine accumulation.

Intellectual disabilities and developmental issues.

Low-phenylalanine diet is the main treatment.

Prenatal screening.

Management during pregnancy for women with PKU.

Chromosomal Disorders:

Chromosomal disorders result from abnormalities in chromosome number or structure.

Aneuploidy: Abnormal chromosome number (trisomy, monosomy).

Polyploidy: More than two sets of chromosomes (triploidy, tetraploidy).

Structural aberrations: Changes in chromosome structure (deletion, duplication, inversion, translocation).

Causes include non-disjunction and translocation.

Down’s Syndrome:

Down syndrome is caused by an extra copy of chromosome 21 (Trisomy 21).

Physical characteristics include slanted eyes and intellectual disabilities.

Increased risk of congenital heart defects and respiratory issues.

Diagnosis through karyotyping and prenatal tests.

Early intervention and support.

Klinefelter’s Syndrome:

Klinefelter syndrome is characterized by an extra X chromosome in males (XXY).

Physical features include small testes, gynecomastia, and tall stature.

Infertility due to reduced sperm production.

Learning disabilities and speech delays.

Hormone replacement therapy.

Genetic counseling for family planning.

Turner’s Syndrome:

Turner syndrome involves the complete or partial absence of one X chromosome in females (45,X).

Physical features include short stature and webbed neck.

Congenital heart defects and kidney abnormalities may occur.

Hormonal imbalance leads to delayed puberty.

Normal intelligence with possible learning disabilities.

Hormone replacement therapy and growth hormone therapy.

Genetic counseling for family planning.

Color Blindness:

Color blindness is a genetic condition affecting color perception.

Genes for color vision are located on the X chromosome.

Normal vision (XNXN), carrier (XNXn), and color blind (XnY) genotypes.

Carriers are typically females with one normal and one mutated allele.

Color blindness is more common in males.

Prenatal diagnosis is possible.

Sickle Cell Anemia:

Sickle cell anemia is a genetic disorder affecting hemoglobin.

Autosomal recessive inheritance: HbA/HbA (normal), HbS/HbS (affected), HbA/HbS (carrier).

Mutation in the HBB gene leads to abnormal hemoglobin (HbS).

Heterozygous advantage in malaria-endemic regions.

Genetic variation within populations.

Selective advantage and historical context.

Prevalence varies by region and exposure to malaria.

Phenylketonuria (PKU):

PKU is a genetic disorder affecting phenylalanine metabolism.

Autosomal recessive inheritance.

Mutation in the PAH gene results in phenylalanine accumulation.

Intellectual disabilities and developmental issues.

Low-phenylalanine diet is the main treatment.

Prenatal screening.

Management during pregnancy for women with PKU.