Category: Chromosome

Genomic coordinate (human 12:47,972,967 COL2A1). Cytoband (human 12q13.11 COL2A1). Location = 73.1% Cytoband  Here I  🎁 present: ,”Achondrogenesis-Hypochondrogenesis Type-2″, Victor McKusick, Mendelian Inheritance in Man’, 1966. Achondrogenesis-Hypochondrogenesis Type-2 Achondrogenesis-Hypochondrogenesis Type-2 is a severe spectrum of skeletal dysplasias caused by mutations in the COL2A1 gene. It is characterized by extreme bone shortening, underdeveloped lungs, and is … Continue reading “Achondrogenesis-Hypochondrogenesis Type-2”, Victor McKusick, Mendelian Inheritance in Man, 1966.

  Genomic coordinate (human 12:111,766,887 ALDH2). Cytoband (human 12q24.12 ALDH2). Here I present: “Acute Alcohol Intolerance”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (ALDH2) INTRODUCTION. Acute alcohol intolerance is a metabolic condition where the body cannot efficiently break down alcohol, leading to rapid, highly uncomfortable, and immediate physical reactions. This condition occurs due to an inherited … Continue reading “Acute Alcohol Intolerance”, Victor McKusick, Mendelian Inheritance in Man, 1966. (ALDH2)

Genomic coordinate (11:32,387,775 WT1 &  11:1,900,000 WT2). Cytoband (11p13 WT1 &  11p15.5 WT2). Here I 🎁 present: “Wilms Tumor 1 & 2“, Victor McKusick, Mendelian Inheritance in Man’, 1966. (WT1&2). Five Stages of Wilms Tumor. Staging is a measure of how far the tumor has spread. It helps our doctors determine the best treatment for your child.  … Continue reading “Wilms Tumor 1 & 2”, Victor McKusick, Mendelian Inheritance in Man, 1966. (WT1&2)

Genomic coordinate (human 11:47,214,457 DDB2). Cytoband (human 11p11.12 DDB2). Here I 🎁 present: “Xeroderma Pigmentosum Group-E”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (DDB2). INTRODUCTION. Xeroderma pigmentosum  (XP) is an inherited genetic disorder characterized by an extreme sensitivity to ultraviolet (UV) radiation from sunlight and certain artificial lighting. The condition arises because the body’s natural … Continue reading “Xeroderma Pigmentosum Group-E”, Victor McKusick, Mendelian Inheritance in Man, 1966. (DDB2).

  Genomic coordinate (human 12:53,307,455 AAAS). Cytoband (human 12q13.13 AAAS). Here I present: “Allgrove (AAA) Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. INTRODUCTION. Allgrove syndrome, is an inherited autosomal recessive disorder caused by mutations in the AAAS gene. It gets its name from three cardinal features: Achromasia (adrenal insufficiency), Achalasia, and Alacrima.   Core Manifestations: Most individuals … Continue reading “Allgrove (AAA) Syndrome”, Victor McKusick, Mendelian Inheritance in Man, 1966.