CBB
Terms
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copy deck
- 1 gene has more than 1 effect on an individual's phenotype
- pleiotropy
- mutations at different loci can produce the same phenotype e.g. albinism
- locus heterogeneity
- MR, hyperphagia, obesity, hypogonadism, hypotonia
- Prader-Willi syndrome deletion of nlly active paternal allele
- MR, seizures, ataxia, happy puppet
- Angelman's syndrome deletion of nlly active maternal allele
- all female offspring of affected father are diseased
- XD ex: hypophosphatemic rickets example:
- AKPD chr
- 16 also have berry aneurysms, MVP, polycystic liver dz
- hereditary hemorrhagic telangiectasia / Osler-Weber-Rendu syndrome
- telangiectasia, recurrent epistaxis, skin discoloration, AVM AD
- Name some AD dz
- hereditary spherocytosis Marfan's MEN tuberous sclerosis VHL
- deletion of tumor suppressor gene on chr 3
- VHL constitutive expr of HIF (txn factor) and activation of angiogenic growth factors
- deletion of tumor suppressor gene on chr 5
- FAP deletion of APC
- MR, large testes/jaw/ears, autism
- fragile X syndrome CGG repeat mutation affecting methylation and expr of FMR1
- CTG repeat
- myotonic dystrophy
- pregnancy quad screen for Downs
- dec AFP inc A-inhibin dec estriol inc B-HCG
- micrognathia (small jaw), clenched hands, low-set set ears, prominent occiput, congenital HD, severe MR, rocker-bottom feet
- trisomy 18 - Edwards
- holoProsencephaly, cleft lip/Palate, Polydactyly, severe MR, rocker-bottom feet, microphthalmia, microcephaly
- trisomy 13 - Patau
- microdeletion of 5q
- cri-du-chat
- microdeletion of 7p, which includes elastin gene
- Williams elfin facies, MR, well-developed facial skills, cheerful disposition, cv problems
- 22q deletion syndromes
- DiGeorge velocardialfacial syndrome due to aberrent development of 3rd and 4th branchial pouches
- aortic arch 1
- maxillary artery
- aortic arch 2
- stapedial and hyoid arteries
- aortic arch 3
- common carotid artery, proximal part of internal carotid
- aortic arch 4
- aortic arch proximal part of R subclavian artery
- aortic arch 6
- ductus arteriosus, proximal part of pulm arteries
- mesencephalon
- midbrain
- metencephalon
- pons, cerebellum
- myelencephalon
- medulla
- associated with holopresencephaly
- severe fetal alcohol syndrome, Patau's syndrome
- branchial arch 1
- CN V2 and V3 Meckel's cartilage: mandible, malleus, incus, sphenomandibular ligament muscles: muscles of mastication, mylohyoid, ant digastric, tensor tympani, tensor veli palatini, ant 2/3 of tongue
- branchial arch 2
- CN VII Reichert's cartilage: stapes, styloid process, less horn of hyoid, stylohyoid ligament muscles: facial expr, stapedius, stylohyoid, post digastric
- branchial arch 3
- CN IX cartilage: greater horn of hyoid muscle: stylopharngeus Congenital pharyngocutaneous fistula - persistence of cleft and pouch - fistula btwn tonillsar area, cleft in lateral neck
- branchial arch 4
- CN X, superior laryngeal branch (swallowing) cartilage: thyroid, cricoid, arytenoids, coriculate, cuneiform muscles: most pharyngeal constrictors, cricothyroid, levator veli palatini
- 1st arch neural crest fails to migrate
- mandibular hypoplasia, facial abnls (Treacher-Collins syndrome)
- branchial arch 6
- CN X, recurrent laryngeal branch (speaking) cartilage: thyroid, cricoid, arytenoids, coriculate, cuneiform muscles: all intrinsic muscles of larynx EXCEPT cricothyroid
- 1st branchial cleft
- ext auditory meatus
- 2nd-4th branchial clefts
- temporary cerival sinuses, obliterated by proliferation of 2nd arch mesenchyme
- 1st branchial pouch
- middle ear cavity eustachian tube mastoid air cells
- 2nd branchial pouch
- epithelial lining of palatine tonsils
- 3rd branchial pouch
- dorsal wings: inf parathyroids ventral wings: thymus "3rd pouch develops into 3 things"
- 4th branchial pouch
- superior parathyoids
- Fabry's disease
- a-galactosidase A deficiency ceramide trihexoside accumulates
- Gaucher's disease
- most common b-glucocerebrosidase deficiency glucocerebroside accumulates
- Niemann-Pick disease
- sphingomyelinase deficiency sphingomyelin accumulates
- Tay-Sachs disease
- hexosaminidase A deficiency GM2 ganglioside accumulates
- Krabbe's disease
- galactocerebrosidase deficiency galactocerebroside accumulates
- metachromatic leukodystrophy
- arylsulfatase A deficiency cerebroside sulfate accumulates