U World Genetics

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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