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50 Cards in this Set

  • Front
  • Back
associated with deletion of q arm chromosome 22
DiGeorge syndrome
facial dysmorphia, cleft palate, thymic and parathyroid aplasia, congenetical CV anomalies
DiGeorge syndrome
t(14:18)
Follicular lymphoma
Bcl-2 overexpression
t(9:22)
chronic myelongenous leukemia
Bcr-abl hybrid
decreased a-FP
Down's syndrome
different causes for Turner syndrome
1. 45 XO
2. mosaicism from early mitotic dysfunction, 45XO/46XX
3. structural X abnormalities, 46XX with partial X deletion
short stature, primary amenorrhea, streaked ovaries, cystic hydromas, coarctation of the aorta
Turner syndrome
greater than 200 repeats causes hypermethylation leading to activation of this gene
FMR-1 gene (fragile X)
connective tissue rich in lymphoid aggregates between cystic spaces, found along with lymphedema in what disorder
Turner syndrome
multiple phenotypic manifestations result from single genetic mutation
pleiotropy
associated with: renal angiomyolipoma, subependymal hematomas, cafe au lait spots, cardiac thabdomyoma, facial angiofibroma
Tuberous sclerosis
associated with: micrognathia, microopthalmia, low-set ears, rocker-bottom feet, and clenched hands with overlapping fingers
trisomy 18
distinguishing feature is clenched hands with overlapping fingers
trisomy 18
associated with polygenic inheritance with variable penetrence
androgenetic alopecia
major determinent of early-onset baldness in both men and women
genetic variation on human androgen receptor - polygenic inheritance
mutation impairs post-translocation processing of gene transcript, degredation of gene before it reaches cell surface leading to absence of apical protein
cystic fibrosis - CFTR mutation
3 causes for Down's syndrome
1. 95% meotic nondisjunction
2. unbalance robertsonian translocation with extra arm
3. mosaicism with two different cell lines (46XX/47XX + 21)
associated with hypotonia, poor feeding, jaundice, macroglossia, umbilical hernia
congenital hypothyroidism
expression of genes via methylation
imprinting
genetics of achondroplasia
associated with being autosomal dominant with full penetrance
found on p arm of chromosome 3
VHL gene
associated with cleft lip/palate, polydactyly, rocker-bottom feet, holoprosencephaly
trisomy 13
*only 5% survive to 6 months
associated with mental retardation, eczema, musty body odor
phenylketonuria
probability of carrying female will have affected child with hemophilia
1/2 (chance of passing on gene) x 1/2 (male child only) = 1/4
*hemophilia is x-linked recessive disorder
probability of female having affected child with hemophilia if her mother is a carrier and her father was normal
1/2 (maybe carrier) x 1/2 (chance of passing on if carrier) x 1/2 (male child) = 1/8
associated with increased risk of developing AML or ALL
down's syndrome
GAA triplet repeat on chromosome 9
Freidrich Ataxia
what is disorder is Freidrich's ataxia associated with
hypertrophic cardiomyopathy
what is the chance of a child born to heterozygous recessive parents being a carrier if you know the child is unaffected
2/3
associated with damaged Leydig cells and therefore hypogonadism
Klinefelter syndrome (47 XXY)
what is the LH and FSH levels in Klinefelter's syndrome
both increased due to no feedback inhibition, decreased testosterone from leydig cell destruction
primary amenorrhea is patient with fully developed secondary sexual characteristics
suggests mullerian agenesis
delayed puberty with anosmia
Kullman's syndrome
due to failure of GnRH-secreting nuerons to migrate from olfactory placode to hypothalamus
kallman's syndome
cause histones to bind DNA and prevent trancription of certain genes
hypermethylation of histones
what are auer rods associated with
AML
translocation associated with AML and DIC
t(15:17) - M3 variant
translocation associated with Burkitt lymphoma and c-myc protooncogene
t(8:14)
translocation associated with mantle cell lymphoma and cyclin D gene activation
t(11:14)
translocation that codes for abnormal retinoic acid receptor causing inhibiton of myeloblast differentiation
t(15:17)
refers to co-infection by two viral strains resulting in a virion with genome from one and capsule of the other
phenotypic mixing
develops due to defect in DNA excisional repair
xeroderma pigmentosa
two defective viruses co-infecting the same host cell can yield a cytopathic genome
recombination
mixing of genome in two or more segmented viruses that infect the same host cell - seen in Influenza virus
reassortment
apoplipoprotein E4
associated with Alzheimer's dementia
mixture of some cells containing mutation MtDNA with others containing mostly normal MtDNA, seen in mitochondrial disorders
heteroplasmy
3 Mitochondrial syndromes
1. bilateral vision loss
2. myoclonic seizures and myopathy associated with exercise
3. encephalomyopathy with lactic acidosis and stroke-like episodes
complete hydatiform mole
46XX seen when sperm doesn't allow egg chromosome to replicate
partial hydatiform mole
seen when 2 sperm fertilize one egg resulting in 69XXY or 69XXX - shows some fetal features unlike complete mole
Is neurofibromatosis autosomal recessive or dominant
autosomal dominant