4 chromosomes

Zouis Fics

1. This Door Is Always Open (29k)

Zayn’s always had Louis, and thought he always would. But, when high school starts and that all changes, he’s left with nothing but old memories and a damaged heart. (a growing up AU where Louis’ the boy next door, and Zayn’s hopelessly devoted)

2. Only Fools Rush In (21k)

The night feels like it moves quickly, melting away as they all get steadily drunker; Zayn watches the boys eat and laugh and shove each other around and feels suddenly very glad to be with them, incredibly lucky to have all of them to himself. Especially you..

3. Far Side of The Moon (22k)

The one where Louis’ summer holidays are blessed (or cursed) by the new boy next door. 

Keep reading

3

MNEMONIC: Diseases showing anticipation associated with Triplet Repeat Expansion

Anticipation: pattern of inheritance, symptoms of a genetic disorder become apparent at an earlier age as it is passed on to the next generation, an increase of severity of symptoms is also noted

Huntington Disease (HD)

  • Mnemonic: “HD es una CAGada” in Spanish, cagada means something bad, shitty, to be more precise. This is to remember the CAG trinucleotid repeat.
  • Autosomal Dominant, chromosome 4: “Huntin’ 4 food”
  • Chorea: purposeless movement of limbs, due to a loss of GABAergic neurons of neostriatum (caudate nucleus and putamen) of indirect pathway.
  • Personality changes, dementia, tendency for suicide

External image

Fragile X Syndrome

  • CGG trinucleotid repeat
  • X dominant, FMR 1
  • Mental retardation, large ears and jaw. post-pubertal macro-orchidism (males), attention deficit disorder (females)

External image

Friedreich Ataxia

  • GAA trinucleotid repeat
  • Autosomal recessive, Frataxin gene, chromosome 9
  • Neuronal degeneration: dorsal root ganglia, Clarke column (spinocerebellar tract), posterior column of spinal cord, dentate nucleus, Purkinje cells, Betz neurons, CN nuclei of VII, X, XII
  • Progressive gait & limb ataxia, arreflexia, hypertrophic cardiomyopathy, axonal sensory neuropathy, kyphoscoliosis, dysarthria, hand clumsiness, loss of sense of position, impaired vibratory sensation.

External image

MyoTonic DysTrophy

  • CTG trinucleotid repeat
  • Autosomal Dominant, MD1: chromosome 3; MD2: chromosome 19
  • Muscle loss, cardiac arrythmia, testicular atrophy, frontal baldness, cataracts.

External image