Author: twinkl22004

Genomic coordinate (human 12:26,300,001 AD5). Cytobands (human 12p11.2-q13. AD5). Here I 🎁 present: “Familial Alzheimer Disease Type-5″, Victor McKusick, Mendelian Inheritance in Man’, 1966. (AD5) INTRODUCTION. The pathological progression of Alzheimer’s disease is mapped onto a Thom Catastrophe Model topology surface, conceptualizing the disease transition not as a linear decline, but as a abrupt dynamical shift (a catastrophe) between stable biological … Continue reading “Familial Alzheimer Disease Type-5”, Victor McKusick, Mendelian Inheritance in Man,1966. (AD5)

Genomic coordinate (human 12:53,423,855 AMHR2). Cytoband (human 12q13.13 AMHR2). Intraband % = 69.3%   Here I present: “Anti-Mullerian Hormone Receptor-2″, Victor McKusick, Mendelian Inheritance in Man’, 1966. idc10=Q55.8 (AMHR2) The persistent Mullerian duct syndrome type-2 is characterized by the persistence of Mullerian derivatives, uterus and tubes, in otherwise normally virilized males. Typical persistent Müllerian duct syndrome … Continue reading “Anti-Mullerian Hormone Receptor-2”, Victor McKusick, Mendelian Inheritance in Man, 1966. idc10=Q55.8 (AMHR2)

Genomic coordinate (human 12:47,972,967 COL2A1). Cytoband (human 12q13.11 COL2A1). Intraband %= 73.1% 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 typically … 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)