Site icon Holiday Recipes to Cook

Victor McKusick, “Mendelian Inheritance in Man”, 1966, Chromosome #22.



Here I present: Victor McKusick, “Mendelian Inheritance in Man”, 1966, Chromosome #22.  This book was printed in twelve (12) editions from 1966 to 1998 shown ABOVE.  

The following abbreviations may used for Chromosome #22 traits, listed in alphabetical order.

Chromosome 22. 
ALS1 COMT CSF2RB EWSR FLD1 GPR24 HPS IGLC1 MYH9 PDGFB PPARA
SLC5A1 SOX10 TBX1

Region 22p1 Traits.

Cat eye syndrome.  CES

Thrombophilia.  THPH10

Rhabdoid predisposition syndrome, familial.  RTPS1

Schizophrenia susceptibility locus.  SCZD15

Bernard-Soulier syndrome, type B.  BSS

Giant platelet disorder, isolated. GP1BB

Hyperprolinemia. HRPRO1

Cataract, cerulean, type 2. CTRCT3

Leukemia, chronic myeloid.  CML

Ewing sarcoma.  ES

Neuroepithelioma.  PNE

Li-Fraumeni syndrome.   LFS

Fechtner syndrome.    FTNS

Amyotrophic lateral sclerosis.  ALS1

Pulmonary alveolar proteinosis.   SMDP4

Meningioma, SID-related.  MN1

Dermatofibrosarcoma protuberans.   DFSP

Giant-cell fibroblastoma.   DFSP

Spinocerebellar ataxia. SCA10

Waardenburg-Shah syndrome.   WS2E

Yemenite deaf-blind hypopigmentation syndrome. SOX10

Debrisoquine sensitivity.   CYP2D6

Polycystic kidney disease.    PKD

Leukodystrophy, metachromatic.  MLD

Myoneurogastrointestinal encephalopathy.  MTDPS1

Leukoencephalopathy.   MLC1

DiGeorge syndrome.  DGS2

Region 22q1 Traits.

Velocardiofacial syndrome.  VCFS

Schindler disease.  NAGA

Kanzaki disease.  NAGA

NAGA deficiency, mild.   NAGA

Epilepsy, partial.   FFEVF1

Glutathioninuria.    GSSD

Opitz G syndrome, type II.   GBBB

Ubiquitin fusion degradation.     UFD1L

Transcobalamin deficiency.   TCN2D

Heme oxygenase deficiency.   HMOX1D

Manic Fringe.  LFNG

Leukemia inhibitory factor.   LIF

Sorsby fundus dystrophy.   SFD

Neurofibromatosis, type 2.  NF2

Meningioma, NF2-related, sporadic.  NF2

Schwannoma, sporadic.   SWN1

Neurolemmomatosis.   NF1

Malignant mesothelioma, sporadic.   MESOM

Deafness, autosomal dominant.   DFNA17

Colorectal cancer.   CRC

Cardioencephalomyopathy, fatal infantile.   MC4DN2

Adenylosuccinase deficiency.   ADSLD

Autism, succinylpurinemic.  ADSLD

Glucose/Galactose malabsorption.  GGM

Benzodiazepine receptor, peripheral type.  BZRP

Methemoglobinemia, types I and II.  CYB5R3

  • Here I presented: Victor McKusick, “Mendelian Inheritance in Man”, 1966, Chromosome #22.  There are fifty-three (53) alleles of chromosome #22 listed ABOVE.

HUMAN BODY COMPOSITION.
WATER 60%.
PROTEIN 16%
FAT 16%.
MINERAL 6%.
CARBOHYDRATE 1%.
NUCLEIC ACID 1%.

The “Table of Consanguinity” of bloodline names of familial relationships is shown BELOW.  Mendelian Inheritance is a pair of genes of a Person (one gene from each Parent). This means that a generation pattern of the gene is observed in the “Table of Consanguinity”.

 

 

Exit mobile version