Category: Chromosome

Genomic coordinate (human 12:52,674,736 KRT1) Cytoband  (human 12q13.13 KRT1). Here I present: “White Sponge Nevus”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (KRT1) INTRODUCTION. White sponge nevus (WSN) is an autosomal dominant  condition of the oral mucosa (the mucous membrane lining of the mouth). It is caused by one or more mutations in genes coding for keratin, which causes a defect in the … Continue reading “White Sponge Nevus”, Victor McKusick, Mendelian Inheritance in Man, 1966. (KRT1)

  IDC10 Code = D25.9 Genomic coordinate (human 12:65,824,460 HMGA2 & mouse 10:120,197,180 Hmga2). Cytoband (human 12q14.3 HMGA2  & mouse 10d2 Hmga2). Intraband %= 67.9% HMGA2  OMIM’ genes @ 12q14.3 = 32 genes. ClinVar = 74 HMGA2 variants reported, and 17 pathogenic. Hyperbolic Umbilic Chromosome-12 is 1,200 genes. Cytoband Position (0.5 = human 12q14­.3 & 0.9 = mouse 10d2). Chromosome-12 Cytobands: WG₂B₂GC_CBG₅[HMGA2]B₂G₆ Chromosome-10 Cytobands: BGB4GB[Hmga2]G   Here I 🎁 present: “Types of Uterine Fibroids”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (HMA2) Types of Uterine Fibroids. Subserosal fibroids (a): Grow on the outer surface of the uterine wall. They can expand outward into … Continue reading “Types of Uterine Fibroids”, Victor McKusick, Mendelian Inheritance in Man, 1966. (HMGA2)

 IDC10 Code = E70.21 Hydroxyphenylpyruvate Dioxygenase (HPD) = EC# 1.13.11.27  Genomic coordinate (human 12:121,839,277 HPD). Cytoband (human 12q24.31 HPD). Intraband %= 30.1% HPD OMIM’ genes @ 12q24.31 = 22 genes. ClinVar = 311 HPD variants reported. Hyperbolic Umbilic Chromosome-12 is 1,200 genes. Cytoband Position (0.95 = human 12q24.31). Chromosome-12 Cytobands: WG₂B₂GC_CBG₅B₂[HPD]G₆   Here I 🎁 present: “Type-3 … Continue reading “Type-3 Tyrosinemia”, Victor McKusick, Mendelian Inheritance in Man, 1966. (HPD)

  IDC-10 Code = I78.0 Genomic coordinate (human 12:51,906,944 HHT2). Cytoband (human 12q13.13 HHT2). Here I 🎁 present: “Hereditary Hemorrhagic Telangiectasia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (HHT2) INTRODUCTION. Above is a scientific diagram illustrating ALK1 receptor signaling and how its disruption leads to Hereditary Hemorrhagic Telangiectasia Type-2 (HHT2). Key Elements’ the Selected Diagram: … Continue reading “Hereditary Hemorrhagic Telangiectasia”, Victor McKusick, Mendelian Inheritance in Man, 1966. (HHT2)

IDC-10 Code = R97.8 Genomic coordinate (human 12:103,930,410 TRA1). Cytoband (human 12q23.3 TRA1). Intraband %= 8.4% TRA1  OMIM’ genes @ 12q23.3 = 36 genes.  ClinVar = 48 TRA1 variants reported. Hyperbolic Umbilic Chromosome-12 is 1,200 genes.  Cytoband Position (0.9 = human 12q23.3). Chromosome-12 Cytobands: WG₂B₂GC_CBG₅B₂[TRA1]­G₆   Here I 🎁 present: “Tumor Rejection Antigen”, Victor McKusick, Mendelian Inheritance in … Continue reading “Tumor Rejection Antigen-1”, Victor McKusick, Mendelian Inheritance in Man, 1966. (TRA1)