Genetics



Genetics



1 Specify how the following disorders are usually transmitted genetically. The choices are autosomal dominant or recessive, X-linked recessive, chromosomal disorder, or polygenic disorder.

















































































































































DISORDER INHERITANCE PATTERN
von Willebrand disease Autosomal dominant
Neurofibromatosis Autosomal dominant
MEN I/II syndrome Autosomal dominant
Achondroplasia Autosomal dominant
Sphingolipidoses (Tay-Sachs disease, Gaucher disease) Autosomal recessive
Fabry disease X-linked recessive
Mucopolysaccharidoses (e.g., Hurler disease) Autosomal recessive
Hunter disease X-linked recessive
Glycogen storage diseases (e.g., McArdle disease) Autosomal recessive
Cystic fibrosis Autosomal recessive
Marfan syndrome Autosomal dominant
Huntington disease Autosomal dominant
Pyloric stenosis Polygenic disorder
Cleft lip/palate Polygenic disorder
Type 2 diabetes Polygenic disorder
Down syndrome Chromosomal disorder (trisomy 21)
Familial hypercholesterolemia Autosomal dominant
Galactosemia Autosomal recessive
Amino acid disorders (e.g., phenylketonuria) Autosomal recessive
Edward syndrome Chromosomal disorder (trisomy 18)
Sickle cell disease Autosomal recessive
Hemophilia X-linked recessive
Glucose-6-phosphatase deficiency X-linked recessive
Patau syndrome Chromosomal disorder (trisomy 13)
Lesch-Nyhan syndrome X-linked recessive
Obesity Polygenic disorder
Neural tube defects Polygenic disorder
Turner syndrome Chromosomal disorder (XO)
Schizophrenia Polygenic disorder
Duchenne muscular dystrophy X-linked recessive
Wiskott-Aldrich syndrome X-linked recessive
Bruton agammaglobulinemia X-linked recessive
Fragile X syndrome X-linked recessive
Children’s polycystic kidney disease Autosomal recessive
Wilson disease Autosomal recessive
Bipolar disorder Polygenic disorder
Ischemic heart disease Polygenic disorder
Alcoholism Polygenic disorder
Hemochromatosis Autosomal recessive
Adrenogenital syndrome (e.g., 21-hydroxylase deficiency) Autosomal recessive
Familial polyposis coli Autosomal dominant
Adult polycystic kidney disease Autosomal dominant
Hereditary spherocytosis Autosomal dominant
Tuberous sclerosis Autosomal dominant
Myotonic dystrophy Autosomal dominant

MEN, Multiple endocrine neoplasia.


Fabry disease is the exception to the rule that the sphingolipidosis disorders are autosomal recessive.


Hunter disease is the exception to the rule that the mucolipopolysaccharidase disorders are autosomal recessive.

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Apr 8, 2017 | Posted by in NURSING | Comments Off on Genetics

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