Category: Chromosome

IDC10 Code = Q78.8 Genomic coordinate (human 12:47,972,967 COL2A1). Cytoband (human 12q13.11 COL2A1). Intraband%=  73.1% COL2A1 OMIM’ genes @ 12q13.11 = 12 genes. OMIM’ pleiotropy = (#156550 Kniest Dysplasia & 15-other conditions). Polymorphs = 3,750 COL2A1 variants in ClinVar. Hyperbolic Umbilic Chromosome-12 is 1,200 genes. Here I present: “Kniest Dysplasia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (COL2A1) … Continue reading “Kniest Dysplasia”, Victor McKusick, Mendelian Inheritance in Man, 1966. (COL2A1)

IDC10–Code = Q87.89 Genomic coordinate (human 12:14,880,864 MGP). Cytoband (human 12p12.3 MGP). Intraband %= 5.4% MGP OMIM’ genes @ 12p12.3 = 20 genes. Polymorphs = 173 MGP variants in ClinVar. Hyperbolic Umbilic Chromosome-12 is 1,200 genes. Here I present: “Keutel Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (MGP) INTRODUCTION. Matrix Gla protein (MGP) is member of a family of vitamin-K2 dependent, Gla-containing proteins. MGP has a … Continue reading “Keutel Syndrome”, Victor McKusick, Mendelian Inheritance in Man, 1966. (MGP)

Genomic coordinate (human 12:52,674,736 KRT1). Cytoband (human 12q13.13 KRT1). Intraband%= 46.3% KRT1  OMIM’ genes @ 12q13.13 = 31 genes. Hyperbolic Umbilic Chromosome-12 is 1,200 genes. Polymorphs = 264 KRT1 variants. Here I present: “Keratin-1 Gene Pleiotropic Disorders“, Victor McKusick, Mendelian Inheritance in Man’, 1966. (KRT1) INTRODUCTION. The BELOW listed six (6) skin conditions share the core … Continue reading “Keratin-1 Gene Pleiotropic Disorders”, Victor McKusick, Mendelian Inheritance in Man, 1966. (KRT1)

IDC10 Classification = L85.1 Genomic coordinate (human 12:52,674,736 KRT1) & (human 12:49,961,872 AQP5). Cytoband (human 12q13.13 KRT1) & (human 12q13.12 AQP5). Cytogenetic Classification = Chromosome-12 C-group. Topological Classification is Hyperbolic Umbilic Chromosome-12 of 1,200 genes. Here I 🎁 present: “Palmoplantar Keratoderma”, Victor McKusick, Mendelian Inheritance in Man’, 1966. INTRODUCTION. Keratoderma is a broad term for marked thickening of the skin’s outer … Continue reading “Palmoplantar Keratoderma”, Victor McKusick,Mendelian Inheritance in Man, 1966.

Genomic coordinate (human 12:10,000,001 IBD2). Cytoband (human 12p13.2-q24.1 IBD2). Thom Classification: Hyperbolic Umbilic Chromosome-12 is 1,200 genes. Cytogenetic Classification: Chromosome-12 is C-group. Here I  🎁 present: “Paneth Lysozyme Cell in Inflammatory Bowel Disease”, Victor McKusick, Mendelian Inheritance in Man’, 1966. Paneth Lysozyme Cell in Inflammatory Bowel Disease. In Inflammatory Bowel Disease (IBD2), Paneth cells (which … Continue reading “Paneth Lysozyme Cell in IBD”, Victor McKusick, Mendelian Inheritance in Man, 1966.