chapter 5 Flashcards
what gene locus is involved in marfan syndrome
Chr 15q21.1
what protein is defective in marfans
fibrillin-1
what are the two clinical manifestations of marfans
- decreased structural support from CT
- excessive TGF-B signalling
in what dz is pectus excavatum a sxs
marfans
what dz is associated with ectopia lentis
marfans
what is the most common COD is marfan’s pts
aortic dissection
in what dz is suturing difficult
ehler’s-danlos
what dz is associated with rupture of cornea and retinal detachment
ED VI (kyphoscoliosis)
what genes are effected in classic E-D
COL5A1/COL5A2
what genes are effected in vascular E-D (III)
COL3A1
which types of E-D are AD
I, II, III, IV, VII
which types of E-D are AR
VI
what genes are affected in kyphoscoliosis ED (VI)
lysyl hydroxylase
what dz is associated with rupture of colon and large arteries
ED III (vascular)
if you see a pt with an MI at age 25 and skin xanthomas, what mutation do you expect them to have
LDL receptor
what dz(s) are associated with cherry-red macula
tay-sachs
Niemann-pick
where is the mutation in tay-sachs
chr 15, alpha-subunit of GM2 ganglioside
what protein is deficient in tay-sachs
hexosaminidase
what molecule accumulates in neurons of tay-sachs pts
gm2 ganglioside
what molecule accumulates in lysosomes of N-P pts
sphingomyelin
what is the inheritance pattern of niemann-pick
AR
what dz is associated w/ foamy cytoplasm
nieman-pick
where is the mutation in niemann-pick dz
Chr 11p15.4
which type of niemann-pick is associated with complete lack of sphingomyelinase
type A
what is the most common type of nieman-pick
type C
which type of nieman-pick has NO CNS involvment
type B
what is the infantile form of nieman-pick
type A
what protein is mutated in gaucher dz
glucocerebroside
what dz is associated w/ improper activation of macrophages
gaucher dz
which subtype of gaucher dz is does not have CNS involvement
chronic, type I
which type of gaucher dz is associated with CNS sxs beginning in adolesence
type III
which subtype of gaucher dz does not have increased prevalance in jewish populations
type II
which dz is associated with “crumpled tissue paper” cytoplasm
gaucher dz
which dz is associated with clouding of the cornea
hurler
buildup of what causes the sxs of hunter and hurler syndromes
mucopolysaccharides (xxxxx-sulfate)
what is the common COD in hunters/hurlers syndrome
MI/cardiac decompensation
what enzyme is deficient in von-gierke dz
glucose-6-phosphatase
what is the major symptom of von-gierke dz
HYPOGLYCEMIA
what enzyme is deficient in mcardle dz
muscle phosphorylase
what are the major sxs of mcardle dz
no increase is lactic acid after excercise
muscle weakness and cramps
what enzyme is deficient in pompe dz
acid maltase
what is the major symptom of pompe dz
cardiomegaly
what is the inheritance pattern of cleft palate
multifactorial (:
what chromosomal disorders typically occur near centromeres
robertsonian translocations
what structure is involved in robertsonian transolation trisomy 21
q arm of chromosome 21
what are the sxs of trisomy 13
PATAU
- polydactyly
- cleft lip and palate
what are the sxs of trisomy 18
EDWARDS
- overlapping fingers
- horseshoe kidney
- micrognathia
what are the sxs of trisomy 21
DOWNS
- flat facial profile
- simian crease
- VSD
what syndrome is associated with chromosome 22q11.2 deletion
DIGEORGE AND velocardiofacial syndrome
what are the sxs of digeorge syndrome
t-cell immunodeficiency (thymic hypoplasia)
HYPOCALCEMIA
what are the sxs of velocardiofacial syndrome
LD, cleft palate, prominent nose
what is the karyotype of the most common cause of male infertility
47, XXY
klinefelter syndrome
what are the sxs of klinefelter
long legs
atrophic testes and small penis
gynecomastia and lower IQ
what three things are pts with 47, XXY karyotype at increased risk of
BREAST CANCER
type II DM
MVP
what is the phenotype of the genetic dz associated with cystic hygroma
45, X
what is the cause of cystic hygroma
lymph stasis
what dz is associated with streak ovaries
turner
what gene locus is affected in fragile X syndrome
Xq27.3
what protein is associated with fragile x syndrome and why is it dysfunctional
FMR-1 protein
excessive CGG repeats
what gene locus is affected in huntingtons **
4p16.3
what dz is associated with macroorchidism and MR in males
fragile x
what is the inheritance pattern of fragile x
X-linked, w/ some CARRIER MALES and ANTICIPATION
what dz is associated with coarctation of the aorta and bicuspid aortic valve
turners
which when do CAG repeat expansions occur in huntingtons
spermatogenesis
