Student Nurse Laura

Orem – "creative effort of one human being to help another human being."

Abnormalities – Genetics

Posted by Laura on March 5, 2010

Chromosome structure – translocation, addition or deletion: Down, Edwards, Patau

Sex Chromosome – monosomy X : Turner  or trisomy XXY: Klinefelter.

Inheritance Factors

Multifactorial (genetic & environmental): pyloric stenosis, cleft lip, cleft palate


  • autosomal dominant – Marfan syndrom, dwarfism, polydactyly, Huntington disease, polycyctic kidney disease, neurofibromatosis
  • autosomal recessive – errors of metabolism/PKU, galactosemia, maple syrup urine disease, Tay-Sachs disease, sickle-cell anemia, CF
  • x-linked dominant – Fragile X syndrome, Vit D resistant rickets
  • x-linked recessive – Hemophilia, color blindness, Duchenne muscular dystrophy

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