ICD-10 Code = Q87.5
Genomic coordinate (human 12:46,653,017 COL2A1).
Cytoband (human 12q13.11 COL2A1).
Intraband %= 24.2% COL2A1
OMIM’ genes @ 12q13.11 = 12 genes.
ClinVar = 3,498 COL2A1 variants reported.
Hyperbolic Umbilic Chromosome-12 is 1,200 genes.
白灰₂黑₂灰縊_縊黑灰₅黑₂灰₆
Chromosome-12 Cytobands: WG2B2GC_CBG5B2G6
Here I present: “Stickler Type-1 Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966 (COL2A1)
INTRODUCTION.
Stickler Type-1 Syndrome (hereditary progressive arthro-ophthalmopathy), is a genetic connective tissue disorder characterized by distinctive facial features, eye abnormalities, hearing loss, and skeletal-joint problems. It arises from a defect in the body’s collagen production (specifically type-IIA1 ), which weakens the structural integrity of tissues throughout the body.
