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Flashcards in Genetics continued Deck (10):

McCune-Albright syndrome

causes cafe-au-lait spots, precocious puberty, endocrine problems, and polyostic fibrous dysplasia (replacement of bone with fibrous tissue). lethal in somatic mutations but may be seen d/t mosaicism


hardy-weinburg equations

P + Q = 1. p^2 + 2pq + q^2 = 1. frequency of X linked recessive disease is q in males and q^2 in females. assumes no mutations, no natural selection, completely random mating, and no migration


Prader-Willi: symptoms, inheritance, chromosome

deletion or mutation or non-expression of the paternal gene. Maternal gene is imprinted and can't be expressed. causes intellectual disability, hyperphagia, obesity, hypogonadism, hypotonia. 25% of cases d/t uniparental disomy from mom. chromosme 15


Angelman syndrome: symptoms, inheritance, chromosome

problem/deletion with maternal gene. causes "happy puppet syndrome:" severe intellectual disability, no speech, inappropriate laughter, seizures, ataxia. chromosome 15


hypophosphatemic rickets: inheritance, disease

X-linked dominant inheritance. increased phosphate wasting at the proximal tubule.


neurofibromatosis type I symptoms, inheritance, chromosome

autosomal dominant, cafe-au-lait spots, cutaneous neurofibromas. chromosome 17


von hippel lindau: chromosome

numberous tumors. associated with deletion of VHL tumor suppressor gene on chromosome 3


cystic fibrosis presentations

recurrent bronchitis, fat soluable vitamin deficiencies, infertility in males, meconium ileus, contraction alkalosis and hypokalemia


treatment for cystic fibrosis

N-acetylcystein to loosen mucus plugs and dornase alpha (DNase) to clear leukocytic debris)


Fragile X syndrome: genetics and symptoms

due to an X-linked problem with methylation and expression of FMR1 gene. see macroorchidism post-puberty, long face with large jaw, large ears, autism, and MITRAL VALVE PROLAPSE