USMLE Genetics

Start Studying!

Terms

undefined, object

copy deck

implantation of blastocyst occurs within how long?: one week
within what week does the bilaminar disk form?: week 2
gastrulation, primitive streak, and neural plate begin to form within what week of gestation?: week 4
the embryo is extremely susceptible to teratogens during what span of weeks?: weeks 3-8
the neural tube is formed and organogenesis occurs during what weeks?: weeks 3-8
when does the heart begin to beat and the upper and lower limb buds begin to form?: week 4
by when do genitalia have male/female characteristics?: week 10
name the 2 germ layers present in week 2: epiblast, hypoblast
what 2 cavities are present in week 2?: amniotic cavity, yolk sac
what 2 components of the placenta are present during week 2?: cytotrophoblast, syncytiotrophoblast
what 3 germ layers are present in the third week and what stage is the embryo in?: ectoderm, mesoderm, endoderm; gastrula
the lens of the eye is derived from what germ layer?: surface ectoderm
what germ layer is the adenohypophysis derived from?: surface ectoderm
what germ layer is the neurohypophysis derived from?: neuroectoderm (remember 'neuro')
CNS neurons, oligodendrocytes, astrocytes are derived from which germ layer?: neuroectoderm
what are the ANS, DRG, cranial nerves derived from?: neural crest
melanocytes and parafollicular (C) cells are derived from what?: neural crest (C cells = Crest)
dura mater, CT, bone, muscle, are all derived from what germ layer?: mesoderm
pia, arachnoid, and Schwann cells arise from what?: neural crest
lymph, blood, spleen, kidneys arise from what?: mesoderm
extraocular muscles are derived from what layer?: mesoderm
the dermis is derived from what layer?: mesoderm
lungs, liver, pancreas, thymus, parathyroid all arise from what?: endoderm - gut tube epithelium and derivatives
thyroid follicular cells arise from what layer?: endoderm
what is the postnatal derivative of the notochord?: nucleus polposus of the intervertebral disk
what is the role of the notochord?: induces ectoderm to form neuroectoderm (neural plate)
which is teratogenic: warfarin or heparin?: warfarin - causes multiple anomalies
exposure to ACE inhibitors in utero can have what effect on fetus?: renal damage
what is the role of the umbilical arteries?: return DEoxygenated blood from fetal internal iliac arteries
what is the role of the allantoic duct?: removes nitrogenous waste (from fetal bladder, like a urethra)
what does the truncus arteriosus give rise to?: ascending aorta and pulmonary trunk
the smooth parts of left and right ventricle arise from what embryonic structure?: bulbous cordis
the trabeculated parts of the ventricles and atria arise from what?: primitive ventricle and atria
from what embryologic structure does the coronary sinus originate?: left horn of sinus venosus
the smooth part of the right atrium comes from what?: right horn of sinus venosus
what does the SVC arise from?: right commmon cardinal vein and right anterior cardinal vein
oxygenated blood reaching the heart via the IVC is diverted through ________ and pumped out the aorta to the head: foramen ovale
this structure provides a pulmonary-to-systemic shunt: ductus arteriosus (deoxygenated blood from the SVC is expelled into the pulmonary artery and ductus arteriosus o the lower body of the fetus)
blood entering the fetus through the umbilical vein is conducted via what shunt into the IVC?: ductus venosus
what do you use to keep a patent PDA open?: prostaglandins (3 P's)
the umbilical vein becomes what structure postnatally?: ligamentum teres hepatis
the umbilical arteries become what structure postnatally?: mediaL umbilical ligaments
what is the postnatal correlate to the allantois?: mediaN umbilical ligament
what does the first aortic arch give rise to?: part of the maxillary artery (1st is MAXimal)
what does the second aortic arch give rise to?: stapedial and hyoid artery (Second-Stapedial)
the common carotid artery and proximal part of internal carotid are derived from which aortic arch?: 3rd (c is 3rd letter of alphabet)
what structures does the 4th aortic arch give rise to?: on left - aortic arch; on right - proximal part of subclavian artery
what does the 6th aortic arch give rise to?: proximal part of pulmonary arteries and (on left only) ductus arteriousus
branchial arch 1 derivatives are supplied by what nerves?: CN V2, V3 (1, 2, 3)
branchial arch 2 derivatives are supplied by what nerve?: CN VII (2 II's)
CN IX supplies the derivatives of which branchial arch?: arch 3
branchial arches 4 and 6 are supplied by what nerve?: CN X (4+6=10) (4th arch - superior laryngeal branch, 6th arch - recurrent laryngeal branch)
all of the intrinsic muscles of the larynx are derived from the 6th branchial arch except what?: cricothyroid
which branchial arches form the posterior 1/3 of tongue?: arches 3 and 4
which branchial arch makes no developmental contributions?: arch 5
which nerves are responsible for taste?: solitary nucleus - CN VII, IX, X
tongue sensation is supplied by which nerves?: CN V3, IX, X
motor innervation to the tongue comes from which nerve?: CN XII
what does the first branchial cleft develop into?: external auditory meatus
what do the 2nd through 4th branchial clefts form and then what happens to them?: they form temporary cervical sinues but are obliterated by proliferation of 2nd arch mesnchyme
what can a persistent cervical sinus lead to?: a branchial cyst in the neck
the 1st branchial pouch develops into what?: endoderm-lined ear structures - middle ear cavity, eustachian tube, mastoid air cells
which branchial pouch does the epithelial lining of the palatine tonsil derive from?: 2nd pouch
the inferior parathyroids develop from which branchial pouch?: 3rd pouch (dorsal wings) - 3 is inferior to 4
the ventral wings of the 3rd pouch develop into what structure?: thymus
which branchial pouch do the superior parathyroids develop from?: 4th pouch
aberrant development of 3rd and 4th pouches results in what syndrome?: DiGeorge's - leads to T-cell deficiency (thymic aplasia) and hypocalcemia (failure of parathyroid development)
what is the most common site for ectopic thyroid tissue?: tongue
cleft lip results from the failure of fusion of what?: maxillary and medial nasal processes (primary palate)
cleft palate results form the failure of fusion of what?: lateral palatine processes, the nasal septum, and/or median palatine process (formation of secondary palate)
what does the ventral pancreatic bud differentiate into?: pancreatic head, uncinate process (lower half of head), and main pancreatic duct
the spleen arises from dorsal mesentery but is supplied by artery of which gut?: foregut
the genital tubercle gives rise to what strucures?: glans penis, glans clitoris (3 g's)
what structure do the corpus spongiosum and vestibular bulbs arise from?: urogenital sinus
what is the female analogue of the bolbourethral glands (Cowper's), and what do they arise from?: greater vestibular glands (Bartholin's); urogenital sinus
which branchial arch supplies: mandible, malleus, incus, sphenomandibular ligament, muscles of mastication (temporalis, masseter, lateral and medial pterygoids), mylohyoid, anterior belly of digastric, tensor tympani, tensor veli, palatini, and anterior: branchial arch 1
which branchial arch supplies: stapes, styloid process, lesser horn of hyoid, stylohyoid ligament, muscles of facial expression, stapedius, stylohyoid, posterior belly of digastric?: branchial arch 2
what cartilage and muscle does branchial arch 3 supply?: greater horn of hyoid, stylopharyngeus (CN IX)
thyroid, cricoid, arytenoid, coniculate, and cuneiform cartilages are derivatives of which branchial arches?: branchial arches 4-6
most pharyngeal constrictors, cricothyroid, levator veli palatini are supplied by which branchial arch?: branchial arch 4
the superior laryngeal branch of CN X supplies which branchial arch?: 4th branchial arch
the recurrent laryngeal branch of CN X supplies which branchial arch?: 6th
what placental component is derived from the mother rather than the fetus?: lacunar network
the omental bursa and greater omentum are derived from what?: dorsal mesogastrium, which is the mesentary of the stomach regoin
what does an ostium primum type of ASD result from: failure of the septum primum to fuse with the endocardial cushions
what does a sacrococcygeal teratoma arise from? what is it?: tumor that arises from remnants of the primitive streak (which normally disappears); more common in female infants; usually becomes malignant during infancy and must be removed before 6 mos.
what is a chordoma?: tumor that arises from remnants of notochord - may be found intracranially or in sacral region; usually occurs in men late in life
what is caudal dysplasia and what causes it?: constellation of syndromes ranging from minor lesions of vertebrae to complete fusion of lower limbs - caused by abnormal gastrulation
what causes tetralogy of fallot?: abnormal neural crest cell migration such that there is skewed development of the AP septum
list the four classic malformations associated with tetralogy of fallot: pulmonary stenosis, overriding aorta, VSD, RVH
what is the most common clinically significant ASD?: foramen secundum defect - caused by excessive resorption of septum primum, septum secundum, or both
what is the most common type of VSD?: membranous VSD
what is the cause of a membranous VSD?: faulty fusion of the right bulbar ridge, left bulbar ridge, and AV cushions
postductal coartctation of the aorta is commonly associated with what syndrome?: turner's syndrome (XO)
which crosses the placenta: IgM or IgG?: IgG
AFP is elevated in what type of defects?: neural tube - spina bifida, anencephaly
what is the cause of spina bifida occulta and how common is it?: defect in the vertebral arches (least severe variation; tuft of hair); occurs in 10% of the population
what causes spina bifida with meningocele?: occurs when the meninges project through a vertebral defect, forming a sac filled with CSF
what is a meningomyelocele?: meninges and spinal cord project through a vertebral defect, forming a sac
what is the most severe type of spina bifida?: spina bifida with myeloschisis - open neural tube that lies on surface of back
what is the result when the anterior neuropore fails to close?: anencephaly - most common defect seen in stillborn fetuses
what is an arnold-chiari malformation?: cerebellomedullary malformation in which caudal cerebellar vermis and tonsils and medulla herniate through the foramen magnum
why does arnold-chiari malformation result in hydrocephalus?: because the outlet foramina of the fourth ventricle are obliterated (obstructive hydrocephalus)
arnold-chiari malformation is commonly associated with what other defects?: lumbar meningomyelocele, platybasia, aqueductal stenosis
congenital deafness is associated with in utero exposure to what virus?: rubella
name five causes of congenital cataracts: rubella, toxoplasmosis, congenital syphilis, down syndrome, galactosemia (inborn metabolic error)
what is associated with polyhydraminos and tracheoesophageal fistula?: esophageal atresia
annular pancreas is associated clinically with what shortly after birth?: obstruction of duodenum
when does an accesory pancreatic duct develop?: when the proximal part of the dorsal bud duct persists and enters the duodenum at its own site
what happens when fetal islets are exposed to high blood glucose levels?: accelerated development of pancreatic islets; associated with increased birth weight
how does an omphalocele present in a newborn?: a light gray, shiny sac protruding from the base of the umbilical cord
when does an omphalocele occur?: when the intestines (midgut loop) fail to return to the abdominal cavity
meckel's diverticulum occurs when a remnant of what persists?: vitelline duct
what occurs when the vitelline duct remains open: vitelline fistula - may present with fecal discharge at the umbilicus
what is gastroschisis and when does it occur?: protrusion of the viscera - occurs when there is a defect in the ventral abdominal wall
what is malrotation of the midgut associated with clinically?: volvulus
where is the appendix normally located in relation to the cecum and where is it located when it is retrocecal or retrocolic?: normally found on the medial side of the cecum; retrocecal/colic - located on posterior side of cecum or colon
during the canalicular period of lung development (wks 3-15), what develops?: respiratory bronchioles and terminal sacs (primitive alveoli); premature infants born at less than 20 wks gestation rarely survive
when does differentiation of type I and type II pneumocytes begin?: week 24; premature fetuses born b/w wk 25-28 can survive w/ intensive care - earliest period at which fetuses can survive
name two defects that pulmonary hypoplasia can be found in association with: congenital diaphragmatic hernia and bilateral renal agenesis
when does a pharyngeal fistula occur and where is it generally located?: occurs when pharyngeal pouch 2 and pharyngeal groove 2 persist - forms patent opening from the internal tonsillar area to the external neck; found along the anterior border of the SCM
what causes first arch syndrome?: lack of migration of neural crest cells into branchial arch 1 (treacher collins, pierre robin)
what happens when the ureteric bud fails to develop?: renal agenesis
what is the result of bilateral renal agenesis?: potter syndrome - oligohydraminos allows uterine wall to compress fetus: deformed limbs, wrinkly skin, abnormal facial appearance
why is normal ascent of the kidneys arrested with horseshoe kidney?: the fused portion gets trapped behind the IMA
when does duplication of the urinary tract occur?: when the ureteric bud prematurely divides before penetrating the metanephric mesoderm
what other malformation is associated with exstrophy of the bladder?: epispadias
cyst found along the midline on a path from the umbilicus to the apex of the urinary bladder: urachyl cyst - remnant of allantois persists
of what origin are the primitive neuroblasts found in neuroblastoma?: neural crest
name the three classic areas described in wilms' tumor: stromal area, tightly-packed embryonic cells, small tubules
what causes hypospadias?: urethral folds fail to fuse completely, resulting in the external urethral orifice opening onto the ventral surface of the penis
what is the defect in osteogenesis imperfecta?: type I collagen
what protein is defective in marfan's?: fibrillin
chances of achondroplasia increase with what?: increasing paternal age
unusually flat abdomen, breathlessness, and cyanosis in a newborn may be signs of what?: congenital diaphragmatic hernia
on which side is a congenital diaphragmatic hernia most commonly found, and what causes it?: left posterolateral side; caused by failure of pleuroperitoneal membrane to develop
an infant who vomits when laid on its back may have what?: esophageal hiatal hernia - renders esophagogastric sphincter incompetent so that stomach contents reflux into esophagus
deletion in the short arm of chromosome 5 results in what?: cri du chat syndrome
deficits such as MR, microcephaly, heart defects, and cat-like cry are characteristic of what?: cri du chat syndrome
what is the chromosomal abdnormality associated with Prader-Willi syndrome?: deletion of band q12 on chromosome 15 (found in the father)
MR, hyperphagia, and hypogonadism are characteristics of what congenital syndrome?: Prader-Willi
what is the chromosomal abdnormality associated with angelman syndrome: deletion of band q12 on chromosome 15 (found in the mother)
what are characteristics of angelman syndrome?: severe MR, seizures, dystaxia
the triad of heart defects, cataracts, and deafness are associated with what viral agent?: rubella
MR, microcephaly, cerebral calcifications, blindness and chorioretinitis, and hepatosplenomegaly are associated with what fetal infection?: CMV
MR, hydrocephalus, microcephaly, microphthalmia, chorioretinitis, and intracranial calcifications are associated with what nonviral infection?: toxoplasma
name some characteristics of congenital syphilis: MR, hydrocephalus, deafness, corneal opacity and blindness, abnormal teeth (Hutchinson) and bones
when given to pregnant women, what types of abnormalities can lithium cause in the fetus?: congenital anomalies of the heart and great vessels
MR, microcephaly, craniofacial defects, and nail and digital hypoplasia can result from in utero exposure to what anticonvulsant?: phenytoin (dilantin)
digeorge's syndrome, cardiac malformations, and hirschprung's all result from failure of migration of what type of cells?: neural crest cells
infant who becomes cyanotic while crying may have what?: persistent truncus arteriosus
what does a persistent truncus arteriosus result from?: failure of aorticopulmonary system to form
annular pancreas results from what abnormality?: rotation of the ventral pancreatic bud around the second part of the duodenum
the alar plate forms what part of the spinal cord?: dorsal - becomes sensory/afferent
the basal plate forms what part of the spinal cord?: ventral - becomes motor
90% of PKD cases are due to a mutation in what? what chromosome is it on?: APKD1 on chromosome 16
this autosomal dominant disorder is associated with polycystic liver disease, berry aneurysms, mitral valve prolapse: adult polycystic kidney disease
the juvenile form of PKD is inherited in what manner?: autosomal recessive
what is another name for familial hypercholesterolemia?: hyperlipidemia type IIA
heterozygotes (1:500) with familial hypercholesterolemia have approx. what cholesterol level?: 300
homozygotes with familial hypercholesterolemia have approximately what cholesterol?: 700
what is the defect in familial hypercholesterolemia?: defective or absent LDL receptor
marfan's results from a defect in what gene?: fibrillin - leads to CT disorders
what are the cardiac findings in marfan's?: cystic medial necrosis of aorta -> aortic incompetence and dissecting aortic anuerysms; floppy mitral valve
cafe-au-lait spots, neural tumors, lisch nodules, skeletal disorders (e.g. scoliosis), pheo, and increased tumor susceptibility are associated with what autosomal dominant disease?: neurofibromatosis type I (von Recklinghausen's disease)
on what chromosome is the defect in neurofibromatosis type I: long arm of chromosome 17 - 17 letters in van Recklinghausen
where is the gene responsible for neurofibromatosis type II?: NF2 gene on chromosome 22 (type 2 - 22)
what are the characteristics of neurofibromatosis type II?: bilateral acoustic neuroma, optic pathway gliomas, juvenile cataracts
what is the inheritance pattern of tuberous sclerosis?: autosomal dominant
what are the skin findings associated with tuberous sclerosis?: facial lesions - adenoma sebaceum, hypopigmented 'ash leaf' spots
cortical and retinal hamartomas, seizures, MR, renal cysts, and cardiac rhabdomyomas are associated with what AD disease?: tuberous sclerosis
what is the genetic deletion associated with von Hippel-Lindau disease?: deletion of VHL gene (tumor suppressor) on chromosome 3 - 3 words in VHL
hemangioblastomas of retina/cerebellum/medulla are associated with what AD disorder?: von Hippel-Lindau
about half of all patients with VHL develop what?: multiple bilateral renal cell carcinomas and other tumors
what is the genetic defect in Huntington's?: expansion of CAG repeats on chromosome 4 (CAG - Caudate loses ACh and GABA; hunting 4 food)
what are symptoms common in Huntington's?: depression, progressive dementia, choreiform movements, caudate atrophy, and decreased levels of GABA and ACh in the brain
on what chromosome is the deletion located in familial adenomatous polyposis?: chromosome 5 - 5 letters in polyp
in what autosomal dominant disorder do adenomatous polyps in the colon develop after puberty?: familial adenomatous polyposis
what is increased in hereditary spherocytosis?: MCHC
in what fashion is spherocytosis inherited?: autosomal dominant
what is the defect in achondroplasia?: cell-signaling defect of FGF receptor 3 - dwarfism - short limbs but head and trunk are normal size (autosomal dominant)
how is cystic fibrosis inherited and where is the gene defect?: autosomal recessive; defect in CFTR gene on chromosome 7
what finding in sweat is diagnostic for CF?: increased concentration of Cl- ions
what drug is given to patients with CF to loosen mucous plugs?: n-acetylcysteine
how do you diagnose muscular dystrophies?: increased CPK and muscle biopsy
how is Duchenne's inherited? what kind of mutation occurs? what does it lead to?: X-linked; frame-shift mutation - deletion of dystrophin gene - accelerated muscle breakdown
where does muscle weakness begin in Duchenne's?: pelvic girdle muscles and progresses superiorly
why does pseudohypertrophy of calf muscles occur in Duchenne's? what CV abnormality can occur?: fibrofatty replacement of muscle; cardiac myopathy
what is the genetic defect in Fragile X?: X-linked defect affecting the methylation and expression of the FMR1 gene - triplet repeat disorder (CGG)n
what syndrome is associated with macro-orchidism, long face with large jaw, large everted ears, and autism?: Fragile X
name 4 trinucleotide repeat expansion diseases: Huntington's, myotonic dystrophy, Friedrich's ataxia, fragile X (try hunting for my fried eggs)
what is the most common cardiac malformation in Down syndrome?: septum primum-type ASD due to endocardial cushion defects
MR, flat facial profile, prominent epicanthal folds, simian crease, duodenal atresia, and congenital heart disease are associated with what syndrome?: Down syndrome
people with Down syndrome are at increased risk for developing what leukemia?: ALL
95% of cases of Down syndrome are due to what?: meiotic nondisjunction of homologous chromosomes associated with advanced maternal age (from 1:1500 women under 20 to 1:25 in women over 45)
what percent of cases of Down syndrome are due to robertsonian translocation, and what percent are due to Down mosaicism (no maternal association): 4%; 1%
severe MR, rocker bottom feet, low set ears, micrognathia (small jaw), congenital heart disease, clenched hands, prominent occiput are associated with what syndrome?: Edward's - trisomy 18
severe MR, microphthalmia, microcephaly, cleft lip/palate, abnonrmal forebrain structures, polydactyly, congenital heart disease are found in what syndrome?: Patau's syndrome - trisomy 13
46, XX or XY, 5p-: cri du chat - deletion of short arm of chromosome 5 (cri du has 5 letters)
microcephaly, severe MR, high pitched crying, epicanthal folds, and cardiac abnormalities are found in what syndrome?: cri du chat
variable presentation as DiGeorge syndrome or velocardiofacial syndrome is associated with what chromosomal abnormality?: microdeletion at chromosome 22q11
developmental retardation, microcephaly, facial abnormalities, limb dislocation, and heart and lung fistulas are associated with what syndrome?: fetal alcohol syndrome
what is the number one cause of congenital malformations in the U.S.?: fetal alcohol syndrome
defects seen in fetal alcohol syndrome may occur as a result of what?: inhibition of cell migration
where is the break point in Fragile X?: q27.3 on X chromosome
the test for this condition involves culturing lymphocytes in a folate-deficient medium or with chemical agents such as methotrexate that tend to break chromosomes?: fragile X
the onset of preeclampsia before week 20 is suggestive of what?: hyatidaform mole
this chromosomal defect is the most common of those causing spontaneous abortions: trisomy 16
what 4 trisomies can be seen in live births?: 8, 13, 18, 21
what is the only lipid storage disease that is X-linked?: Fabry's disease
uniparental disomy for chromosome 15 can cause what syndrome?: angelman
what is type I familial dyslipidemia?: hyperchylomicronemia
what is increased in type I/hyperchylomicronemia?: blood TG, cholesterol levels
what is the deficiency in type I/hyperchylomicronemia?: lipoprotein lipase deficiency or altered apo C-II
what is type IIb familial dyslipidemia?: combined hyperlipidemia
what is incresed in combined hyperlipidemia?: LDL, VLDL
what is the defect in combined hyyperlipidemia?: hepatic overproduction of VLDL
what is type III familial dyslipidemia?: dysbetalipoproteinemia
what is increased in dysbetalipoproteinemia? what is elevated in blood?: ILDL, VLDL
: TG, cholesterol
what is the pathophysiology of type III/dysbetalipoproteinemia?: altered apo E
what is increased in type IV/hypertriglyceridemia? what is elevated in blood?: VLDL; TG
what is the pathophysiology of hypertriglyceridemia?: hepatic overproduction of VLDL
what is increased in type V/mixed hypertriglyceridemia? what is elevated in blood?: VLDL, chylomicrons, TG, cholesterol
what is the pathophysiology of type V/mixed hypertriglyceridemia?: increased production/decreased clearance of VLDl and chylomicrons
bcl-2: follicular and undifferentiated lymphomas
erb-2: breast, ovary, stomach cancer
n-myc: neuroblastoma
ret: MEN I/II
l-myc: small cell lung cancer
what is pleiotropy?: one gene has more than one effect on an individual's phenotype
when are Barr bodies seen?: any individual with 2 X chromosomes
what is variable expression?: nature and severity of phenotype varies from 1 individual to another
what is incomplete penetrance?: not all individuals with a mutant genotype show the mutant phenotype
whatis imprinting?: differences in phenotype depend on whether the mutation is of maternal or paternal origin (e.g. angelman's - maternal; prader-willi - paternal)
what is it called when a the severity of a disease worsens or age of onset of disease is earlier in succeeding generations?: anticipation
what is loss of heterozygosity?: if a patient inherits or develops a mutation in a tumor suppressor gene, the complementary allele must be deleted/mutated before cancer develops - not true for ongogenes
what is a dominant negative mutation?: exerts a dominant effect - a heterozygote produces a nonfunctional altered protein taht also prevents the normal gene product from functioning
what is linkage disequilibrium?: tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - measured in a population, not a family, and often varies in different populations
what is mosaicism?: occurs when cells in the body have different genetic makeup - e.g. lyonization - random X inactivation in females
what is locus heterogeneity?: mutations at different loci can produce the same phenotype (e.g. albinism)
if a population is in Hardy-Weinberg equilibrium, then disease prevalence equals what?: p2 + 2pq + q2 = 1
if a population is in Hardy-Weinberg equilibrium, then what does allele prevalence equal?: p + q = 1
for Hardy-Weinberg - p and q are separate alleles: what does 2pq equal?: heterozygote prevalence
hypophosphatemic rickets is inherited in what manner?: X-linked dominant - transmitted through both parents - either male or female offspring of the affected mother may be affected, while all female offspring of the affected father are diseased
name 2 diseases with mitochondrial inheritance: Leber's hereditary optic neuropathy; mitochondrial myopathies
what is heteroplasmy?: presence of normal as well as mutated mitochondrial DNA
what is nondisjunction?: failure of separation of chromosomes
what is a balanced translocation?: occurs when non-homologous chromosomes exchange genetic material in such a way that no critical genetic material is lost
Km: Km

Start Studying!

Deck Info

Number of cards 250