Chromosomal Functions with Associated Diseases
Note: This guide is for educational purposes. Always consult current medical literature and guidelines for clinical decisions.
Group A (1-3)
Chromosome 1
Primary Functions:
- Largest human chromosome (8% of total DNA)
- Controls production of multiple enzymes
- Regulates cell division and growth
Associated Conditions:
- 1p36 deletion syndrome
- Gaucher disease
- Usher syndrome
- Van der Woude syndrome
- Hereditary prostate cancer
Chromosome 2
Primary Functions:
- Second largest chromosome
- Contains genes for immune system function
- Controls growth and development
Associated Conditions:
- 2q37 deletion syndrome
- Waardenburg syndrome
- Harlequin ichthyosis
- Ehlers-Danlos syndrome
Chromosome 3
Primary Functions:
- Controls growth and development
- Involved in DNA repair
- Regulates cell division
Associated Conditions:
- 3p deletion syndrome
- Von Hippel-Lindau syndrome
- Hereditary angioedema
- Multiple myeloma susceptibility
Group B (4-5)
Chromosome 4
Primary Functions:
- Controls cell growth and division
- Regulates bone development
- Involved in processing of proteins
Associated Conditions:
- Huntington's disease
- Ellis-van Creveld syndrome
- Wolf-Hirschhorn syndrome
- Achondroplasia
Chromosome 5
Primary Functions:
- Blood cell formation
- Immune system regulation
- Growth and development
Associated Conditions:
- Cri du chat syndrome
- Spinal muscular atrophy
- Acute myeloid leukemia
- Colorectal cancer
Group C (6-12)
Chromosome 6
Primary Functions:
- Major Histocompatibility Complex (MHC)
- Immune system regulation
- Protein processing
Associated Conditions:
- Hereditary hemochromatosis
- Maple syrup urine disease
- Parkinson's disease susceptibility
- Multiple sclerosis susceptibility
Chromosome 7
Primary Functions:
- Growth and development
- Speech and language development
- Taste sensation
Associated Conditions:
- Cystic fibrosis
- Williams syndrome
- Pendred syndrome
- FOXP2-related speech and language disorders
Chromosome 8
Primary Functions:
- Cell signaling
- Tumor suppression
- Brain development
Associated Conditions:
- Werner syndrome
- Pfeiffer syndrome
- Burkitt lymphoma
- Trichorhinophalangeal syndrome
Chromosome 9
Primary Functions:
- Blood type determination (ABO)
- Cell cycle regulation
- Interferon production
Associated Conditions:
- Chronic myeloid leukemia
- Cartilage-hair hypoplasia
- Hereditary hemorrhagic telangiectasia
- 9p deletion syndrome
Chromosome 10
Primary Functions:
- Hormone production
- Pituitary development
- Energy metabolism
Associated Conditions:
- Multiple endocrine neoplasia type 2
- Refsum disease
- Charcot-Marie-Tooth disease
- Cowden syndrome
Chromosome 11
Primary Functions:
- Hemoglobin production
- Taste and olfactory reception
- Brain development
Associated Conditions:
- Sickle cell disease
- Beta-thalassemia
- Wilms tumor
- WAGR syndrome
Chromosome 12
Primary Functions:
- Muscle formation
- Growth factor production
- Nervous system development
Associated Conditions:
- Phenylketonuria (PKU)
- Noonan syndrome
- Von Willebrand disease
- Spinocerebellar ataxia type 2
Group D (13-15)
Chromosome 13
Primary Functions:
- Cell cycle regulation
- Cancer suppression
- Skeletal development
Associated Conditions:
- Retinoblastoma
- 13q deletion syndrome
- Patau syndrome (Trisomy 13)
- Wilson-Turner syndrome
Chromosome 14
Primary Functions:
- Antibody production
- DNA repair
- Brain development
Associated Conditions:
- Early-onset Alzheimer's disease
- Multiple myeloma
- Uniparental disomy 14
- Cerebral palsy susceptibility
Chromosome 15
Primary Functions:
- Growth and development
- Fertility
- Eye pigmentation
Associated Conditions:
- Prader-Willi syndrome
- Angelman syndrome
- Marfan syndrome
- Albinism
Group E (16-18)
Chromosome 16
Primary Functions:
- Hemoglobin production
- Regulation of iron metabolism
- Development of immune system
Associated Conditions:
- Alpha-thalassemia
- Rubinstein-Taybi syndrome
- MODY2 diabetes
- 16p11.2 deletion syndrome
Chromosome 17
Primary Functions:
- DNA repair mechanisms
- Growth regulation
- Tumor suppression (p53 gene)
Associated Conditions:
- Neurofibromatosis type 1
- Li-Fraumeni syndrome
- CMT disease type 1A
- Miller-Dieker syndrome
Chromosome 18
Primary Functions:
- Muscle development
- Neural development
- Protein synthesis regulation
Associated Conditions:
- Edwards syndrome (Trisomy 18)
- 18q deletion syndrome
- Pitt-Hopkins syndrome
- Tetrasomy 18p
Group F (19-20)
Chromosome 19
Primary Functions:
- Cholesterol metabolism
- DNA repair
- Enzyme production
Associated Conditions:
- Familial hypercholesterolemia
- Myotonic dystrophy type 2
- CADASIL syndrome
- Diamond-Blackfan anemia
Chromosome 20
Primary Functions:
- Blood clotting
- Immune system regulation
- Cell signaling
Associated Conditions:
- Apert syndrome
- MODY diabetes type 2
- Severe combined immunodeficiency
- Waardenburg syndrome type 1
Group G (21-22)
Chromosome 21
Primary Functions:
- Brain development
- Collagen formation
- Immune system regulation
Associated Conditions:
- Down syndrome (Trisomy 21)
- Alzheimer's disease susceptibility
- Acute myeloid leukemia
- Autoimmune polyglandular syndrome
Chromosome 22
Primary Functions:
- Immune system development
- Cancer protection
- Brain development
Associated Conditions:
- DiGeorge syndrome (22q11.2 deletion)
- Neurofibromatosis type 2
- Meningioma
- Cat-eye syndrome
Sex Chromosomes
Chromosome X
Primary Functions:
- Sex determination
- Blood clotting regulation
- Color vision
- Cognitive development
Associated Conditions:
- Duchenne muscular dystrophy
- Hemophilia A and B
- Fragile X syndrome
- Turner syndrome (X monosomy)
- Rett syndrome
- Color blindness
Chromosome Y
Primary Functions:
- Male sex determination
- Sperm production
- Male fertility
Associated Conditions:
- Male infertility
- Gonadal dysgenesis
- Sex reversal
- Klinefelter syndrome (XXY)
- Jacob syndrome (XYY)
Important Clinical Notes:
- Many chromosomal conditions have varying degrees of expression and penetrance
- Environmental factors can influence gene expression
- Regular updates to genetic information may be necessary as new research emerges
- Consider genetic counseling for patients with family history of chromosomal disorders
- Many conditions require multidisciplinary management approach
Disclaimer
The notes provided on Pediatime are generated from online resources and AI sources and have been carefully checked for accuracy. However, these notes are not intended to replace standard textbooks. They are designed to serve as a quick review and revision tool for medical students and professionals, and to aid in theory exam preparation. For comprehensive learning, please refer to recommended textbooks and guidelines.
