“Distal Arthrogryposis-2B”, Victor McKusick, Mendelian Inheritance in Man, 1966. (TNNI2) icd10=Q68.8

  Genomic coordinate (human 11:1;838,981 TNNI2) & (mouse 7:141,995,553 Tnni2). Cytoband (human 11p15.5 TNNI2) & (mouse 7qF5 Tnni2). Here I  🎁 present: “Distal Arthrogryposis-2B“, Victor McKusick, Mendelian Inheritance in Man’, 1966. (TNNI2) icd10=Q68.8 Etymological breakdown of Arthrogryposis.  Arthro-: Derived from arthron, meaning joint. Grypos: From the Greek grypos  meaning curved or hooked. -Osis: A common medical suffix denoting a condition, … Continue reading “Distal Arthrogryposis-2B”, Victor McKusick, Mendelian Inheritance in Man, 1966. (TNNI2) icd10=Q68.8

“Ewing Sarcoma”, Victor McKusick, Mendelian Inheritance in Man, 1966. icd10=C41.9

    Here I  🎁 present: “Ewing Sarcoma”, Victor McKusick, Mendelian Inheritance in Man’, 1966. icd10=C41.9 Oncologist James Ewing described the “primary sarcoma”  in 1921, distinguishing it from osteosarcoma. Oncologist James Ewing was on the cover of “Time” magazine, shown ABOVE, as one of the best experts, in 12 January 1931 issue of the magazine. Ewing … Continue reading “Ewing Sarcoma”, Victor McKusick, Mendelian Inheritance in Man, 1966. icd10=C41.9

“Familial Erythrocytosis-6”, Victor McKusick, Mendelian Inheritance in Man, 1966. (ECYT6) icd10=D75.0

Here I  🎁 present: “Familial Erythrocytosis-6“, Victor McKusick, Mendelian Inheritance in Man’, 1966. (ECYT6) icd10=D75.0 Familial Erythrocytosis-6 (ECYT6) is an inherited blood disorder characterized by an overproduction of red blood cells (erythrocytosis). It is primarily caused by specific genetic mutations that increase the “oxygen affinity” of hemoglobin, meaning the hemoglobin binds oxygen too tightly and … Continue reading “Familial Erythrocytosis-6”, Victor McKusick, Mendelian Inheritance in Man, 1966. (ECYT6) icd10=D75.0

Blanka Schaumann & Milton Alter, “Dermatoglyphics in Medical Disorders”, 1976.

Here I 🎁 present: Blanka Schaumann & Milton Alter, “Dermatoglyphics in Medical Disorders”, 1976. INTRODUCTION  In the mid-1970’s hand ✋and footprint 👣 were used in correspondence with cytogenetics of chromosome aberrations. Trisomy 21, 18 & 13 (Down, Edward & Patau) all showed dermatoglyphics patterns useful in an era of low-resolution karyotypes. Blanka Schaumann & Milton … Continue reading Blanka Schaumann & Milton Alter, “Dermatoglyphics in Medical Disorders”, 1976.