Chromosome
4. Huntington’s
5. deletion of short arm — cri du chat; FAP
6. hemochromatosis
7. microdeletion of long arm of 7 — williams. CF
11. WT1 tumor suppressor mutation in Wilms tumor
13. Wilson’s (mutation in ATP7B)
15. Prader Willi, Angelman
16. ADPKD
17. BRCA1, deletion of PMP22 causes Charcot-Marie Tooth (codes for mitochondrial protein)
21. amyloid precursor protein — causes Alzheimer ’s
Anatomy
Inferior thyroid artery arises from the thyrocervical trunk, a branch of the subclavian artery.
Ligation of the inferior thyroid often damages the recurrent laryngeal nerves (both right and left)
which lie in close proximity to it, during thyroidectomy, resulting in laryngeal muscle paralysis,
hoarseness, and dyspnea.
The superior thyroid artery arises from the external carotid. It travels in the triad of superior
thyroid artery, superior thyroid vein, and external branch of the superior laryngeal nerve. Ligation
of superior thyroid can damage this external branch of the superior laryngeal nerve, during a
thyroidectomy. The cricothyroid muscle is the only muscle innervated by this nerve. ALL
OTHER LARUNGEAL MUSCLES are innervated by the recurrent laryngeal nerves (both right
and left), which prevoide sensory innervation to the larynx below the vocal folds. The internal
branch of the superior laryngeal provides sensory innervation to the laryngeal mucosa above the
vocal folds.
The proximal 1/3 of the ureter receives its blood supply from branches of the renal artery. During
a kidney transplantation, the native kidneys are left in place and the donor kidney is connected to
the external iliac.
Pelvic trauma can cause rupture of the urethra, esp in males, since they have lengthier urethras.
This will cause no voiding of urine upon attempt to urinate. In addition, the location of the
rupture is most commonly the part of the urethra that just is about to enter the prostrate, since
there is a lot of tension there.
The ureters go down from the kidneys on top of the psoas muscle; they cross over the external
iliacs, which are now lateral to them, and the internal iliacs are now medial to them.
Direct inguinal hernias are caused by a weakness in the transversalis fascia.
Middle meningeal artery is a branch of the maxiallary artery which is a branch of the external
carotid
Damage to the common peroneal are plantarflexed and inverted due to paralysis of the peroneus
longus and peroneus brevis (mediates eversion), tibialis anterior (dorsiflexion) and extensor of the
toes
Metastases
1. Choriocarcinoma to lungs, so woman will have hemoptysis. It can follow an abortion, normal
pregnancy, or ectopic pregnancy, but classically follows a hydatiform mole.
2. Renal cell carcinoma to the lungs most common, bone second most common
3. Lung metastasizes to adnreals, brian, bone, liver; metastastasis from breast, colon, prostate,
bladder
4. Liver gets metastasis from colon, pancreas, lung, breast (hepatomegaly with nodular free edge of
liver)
5.
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