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