Chromosome Associations

(quiz yourself)

• 1: Chediak-Higashi
• 2: Waardenburg type I (2q37)
• 3: some assoc with Cornelia de Lange; Waardenburg type II (3p12-14)
• 4: Achondroplasia (4p, fibroblast growth factor receptor 3 (FGFR3) gene)
• 5: Cri-du-chat (5p15); Treacher-Collins
• 7: Russell-Silver (7p11.2); Williams (del of elastin gene and LIM kinase); OI (and 17)
• 9: Tuberous sclerois (TSC-1 gene encodes hamartin, also chrom 16)
• 10: Apert, Crouzon, Pfeiffer (10q26, FGFR2 gene, FGFR1 gene also affected in Pfeiffer)
• 11: Wilms, Smith-Lemli-Opitz (11q 12-13), Beckwith-Wiedemann (usually nl, but sometimes11p); ataxia-telangiectasia (11q22-23); Beta-thalassemia
• 15: Angelman (maternal 15q 11-13), Prader-Willi (paternal 15q 11-13); Marfan (fibrillin)
• 13: Patau (trisomy), retinoblastoma (RB1)
• 16: Rubinstein-Taybi (16p13.3 in 25%); Tuberous Sclerosis (TSC-2 gene encodes tuberin, also chrom 9); alpha thalassemia
• 17: Neurofibromatosis Type I (defect in tumor suppressor gene neurofibromin); OI (and 7)
• 18: Edwards (trisomy)
• 20: Alagille (JAGGED1 gene, ligand for NOTCH gene)
• 21: Down syndrome (trisomy), Leukocyte Adhesion Deficiency (CD11/CD18 complex)
• 22: DiGeorge (22q11), Neurofibromatosis Type II

X-linked

• Duchenne muscular dystrophy
• Fragile X (CGG repeat on the FMR-1 gene)
• Hyper IgM syndrome
• Incontinentia Pigmenti (lethal in most males)
• X-linked agammaglobulinemia (Bruton's)
• Wiscott-Aldritch
• Retts: MECP2 gene on X Chromosome (this disorder affects only girls)

Autosomal Dominant

• Neurofibromatosis (NF-1 and NF-2)
• Job's syndrome
• Charcot-Marie-Toothe

Autodom or auto recessive

• OI