Completar frases Genetic DisordersVersión en línea genetics por kenneth thomas 1 tumor Fragile primary Mesastasis black Leiomyoma children tyrosine gynecomastia Krukenberg's glandular warts white Hemangioma Turner's insphinogomyelin cartilage Seminoma macula striated children 21 supraclavicular liver testicular Gaucher's boys 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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