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Genetic Disorders

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Genetic Disorders

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genetics

Created by

kenneth thomas
kenneth thomas
United States

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Genetic Disorders
 

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Genetic DisordersOnline version

genetics

by kenneth thomas
1

Krukenberg's cartilage Hemangioma tyrosine children warts Seminoma testicular Gaucher's black Leiomyoma gynecomastia insphinogomyelin liver glandular primary Turner's Mesastasis 21 Fragile boys supraclavicular tumor macula striated children white

Genetic Disorders
: XO , female , short stature , webbed neck , lacks female secondary sex characteristics 45X karyotype

Kleinfelter's : XXY , tall male , low IQ , atrophy , , sterile

Down's : Trisomy , male or female , retarded

X : the most common form of mental retardation involving a minimum of 2 X chromosomes and one or more Y chromosomes

Phenylketonuria : cannot convert phenylalanine to due to lack of phenylalanine hydrolase , retardation can be controlled by diet if caught early

Von Gierke's : lacks enzyme to breakdown glycogen . Excessive amounts of glycogen deposited in the

Tay Sachs : increased ganglioside content in the brain ( glycosphingolipid ) , hexosaminidase A deficiency , cherry red spots in the , infant death


: excess glucocerebroside in the brain , liver and spleen

Krabbe's : excess galactocerebroside in matter .

Niemann Pick's : abnormal increase

Alkaptonuria : accumulation of homogentisic acid , blue black deposits in the ears , nose and cheeks . Produces ochronosis causing calcification of the discs of the spine . Urine turns on standing

Duchenne's MD : seen mostly in 3 - 7 years of age . Produces hypertrophy of the calf muscles . Recessive sex linked gene . Increased CPK


Teratoma : of all three germinal layers .

Adenoma : tumor of tissue

: cancer of the stomach that metastasizes to the ovary .

Wilm's : Mixed tumor of the kidney in .

: tumor of smooth muscle ( fibroids in the uterus )

Rhabdomyoma : tumor of muscle or heart muscle

Osteosarcoma : most common bone cancer in

Multiple myeloma : most common malignancy in adults

: most common form of cancer in the spine

Lipoma : fatty tumor

: benign tumor of blood vessels

Xanthoma : yellow tumor of connective tumor

Chondroma : benign tumor of

Papilloma : associated with

: cancer of testes , most common

Virchow's nodes : enlarged lymph nodes due to metastasis , usually GI trac t

 
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