syndromes Flashcards
MEN1, and what gene mutation
pancreas, pituitary, parathyroid. Men1 gene, menin. a tumor suppressor gene that inhibits transcription
MEN2a, and what gene mutation
pheo, medullary thyroid, parathyroid. RET gene, protooncogene in NCC, receptor tyrosine kinase, GOF.
MEN2b, and what gene mutation
pheo, medullary thyroid, mucosal neuromas, marfinoid habitus. RET gene, protooncogene in NCC, receptor tyrosine kinase, GOF.
RET gene GOF vs LOF
RET gene GOF leads to MEN2a/b. LOF is hirschsprungs
Von hipple lindau, and gene mutation/function
answer this…
Cri du chat (include the chromosome)
5p deletion.
mental retardation, cat like cry, VSD, microcephaly
trisomy 21
flat face, abn ears, hypotonia, pelvic dysplasia, single transverse palmar crease. duodenal atresia, tracheoesophageal fistula, VSD
trisomy 18
prominent occiput, micrognathia, small mouth, low set ears, rocker bottom feet. index finger overriding middle finger, fifth finger overriding fourth finger. meckels diverticulum, malrotation
trisomy 13
microphthalmia, coloboma, or cyclops, malformed or absent nose, cleft lip/palate
mental retardation, holoprosencephaly. no olfactory nerve or bulb, NTD
polydactyly, rocker bottom feed
PDA, ASD, VSD
PKD
omphalocele, umbilical hernia, pyloric stenosis.
AD PKD
bilateral kidney cysts, berry aneurysm, mitral prolapse, benign hepatic cysts
Hereditary hemorrhagic telangiectasia, osler weber rendu
telangiectasia esp on tongue and lips. recurrent epistaxis, skin discoloration, AVMalformations, GI bleeds, hematuria.
Marfans
fibrillin 1 mutation. tall, long, arachnodactyly. pectus excavatum, hypermobile joints, cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms. floppy mitral valve. up and out lens dislocation.
NF1 (von recklinghausen dz)
cafe au lait spot, cutaneous neurofibroma,
chormosome 17
