Path-Ew-Logy Exam 2 L1

lunalovegood's version from 2015-10-11 22:07


Question Answer
Annually, 250k babies are born with a ___ ____. 1 in 50 are born with a ... birth defect, major congenital anomaly (70% have unknown cause, 15-20% are genetic)
T/F - Uterine factors - blood supply, nutrients, mechanical injury. -Maternal factors- infection, metabolic imbalances. -Environmental- drugs, chemical, radiation. All can lead to birth defects and congenital anomalies.T
For humans, ____ is a chromosome number that is not a multiple of 23.aneuploidy (non-disjunction during mitosis or meiosis)
The human genome has ~_______ genes.30,000 (~650 per chromosome)
Human DNA is about _________ meters long. It has _________ billion subunits.2, 3
This clumped up X chromosome can be used in sex identification.barr body (in the picture of women's cells there's a little dark clump on the side of the cell)
Are any traits - mutations - diseases on the barr body manifested?nope - totally inactive
A trait that SEEMS to run through families - but cannot be proven to be genetic.familial trait (obesity, heart disease - in order to be inherited need to look at lots of pedigrees)
Normal parents have offspring with trait or disease.spontaneous mutation
A disease that is PRESENT AT BIRTH - but not necessarily inherited.congenital disease (Huntington's disease is inherited at birth BUT does not manifest until the 30s THUS NOT CONGENITAL)
Single gene for multiple anomalies of anatomically distant organs.syndrome
Most of the time, the errors of morphogenesis are caused by unknown reason (could be uterine, placental, maternal, environmental factors)
Absence of the organ WITH persistence of the organ analogue or rudiment that never completely formed.aplasia
Reduced size, incomplete development.hypoplasia (micropthalmia, microcephaly)
Spina bifida is a _____ type of anomaly.dysraphic (defects from failure to fuse)
Persistence of embryonic structures, should have regressed at birth.involution failure (thyroglossal duct)
Incomplete cleavage is called division failure. An example is fused fingers, _____.syndactyly (polydactyly is too many division, many toes and fingers)
Incomplete formation of a lumen...atresia (esophageal atresia)
Upper esophagus connects to trachea - ____ fistula. Lower stomach connects to trachea - _________ fistula.proximal, distal (double fistula is both, fistula is normal connection plus trachea, atresia is lumen is not connected)
Abnormal organization of cells into tissues, example tuberous sclerosis.dysplasia (not cancer definition)
Heart formed outside of the chest cavity...ectopia cardis
Extra 13 --> ___ syndrome. Extra 18 --> ___ syndrome. Extra 21 --> Down Syndrome.Patau, Edwards
Turner Syndrome is 1 in ______ FEMALE births.3000
Female with ONE X chromosome.Turner Syndrome
Turner Syndrome - short or tall?short
Turner Syndrome - lack of _____, infertility.menses
Broad chest, small breasts, widely spaced nipples...Turner Syndrome
Short, infertile, broad chest, small breasts, widely space nipples, hearts defects, coarctation of the aorta, webbed necks, low-set ears, epicanthic folds, widely spaced mandibular rami, more than average pigmented moles.Turner Syndrome
Klinefelter Syndrome is 1 in ____ MALE births.850
XXY or XXXY ...Klinefelter Syndrome
Klinefelter Syndrome - short or tall?tall
Klinefelter Syndrome - small breasts or large breasts?large (gynecomastia, increased risk of breast cancer)
Dental findings in Klinefelter Syndrome...taurodontism, jaw prognathism
Tall, large breasts, no facial hair, small testes, azoospermia, barr bodies, taurodontism, jaw prognathism...Klinefelter Syndrome
XYY ...Super Male
Tall, aggressive, acne, antisocial, 1/3 of inmates ...Super Male
Super Female is 1 in ____ FEMALE births.1200
XXX, XXXX, XXXXX ...Super female
Super Female - short or tall?tall
Super Female - are menses absent or irregular?irregular
Super Female - speech skills are better or worse?worse (delayed speech skills, emotional immaturity)
Tall, menstrual irregularities, gonadal defects, emotional immaturity, delayed speech skills, barr bodies, malocclusion, hypodontia, taurodontism, cleft palate, micrognathia...Super Female
Malocclusion, hypodontia, taurodontism, cleft palate, micrognathia...Super Female
Which 2 syndromes have increased risk with increased MATERNAL AGE?Super Female and Klinefelter Syndrome (syndromes with extra X's)
Which 2 syndromes show taurodontism?Klinefelter's and Super Female
Down Syndrome - 1 in ___ live births. OR 1 in ____ for mothers over 45 y/o.700, 25
T/F - Down Syndrome - 95% of the time is Trisomy 21, which is caused by non-disjunction, and this risk rises with maternal age.T
Down Syndrome- _________% of the time caused by chromosomal translocation. The long arm of 21 is added to 14. This risk increases with ___ age.3%, paternal (or could be familial pattern)
Down Syndrome- ___% of the time caused by chromosomal mosaicism.2%
Intellectual disability, physical growth delays, early aging, dementia, Congenital heart disease, cardiomegaly, immunologic defects, risk for lymphocytic leukemia, and skeletal problems with ligament laxity especially in cervical region.Down Syndrome
Down Syndrome - cardiomegaly is seen _________-_________% of the time.30-45%
Brachycephaly, large fontanelles, small dismorphic ears, Simian crease, open mouth, protruding tongue, macroglossia w/ fissures, short narrow palate, small oral cavity, reduced parotid saliva, increased pH, periodontal disease, epicanthic folds, Brushfield spots in irises.Down Syndrome
Down Syndrome - _________% of the time they have periodontal disease.90%
Pale grey spots in the iris are called...Brushfield spots
Multifactorial (polygenic inheritance) disorders imply both genetic and ___ factors.environmental (most common group of disorders, diabetes, HTN, hypercholestolemia)
Neurofibromatosis, tuberous sclerosis, familial hypercholesterolemia, and storage diseases are all...Mendalian disorders (monogenic defects)
Tuberous sclerosis occurs in _________ out of 100,000 people.6
Ash leaf macules...tuberous sclerosis
Neurocutaneous disorder with seizures, infantile spasms...tuberous sclerosis
Tuberous scleorosis is autosomal ____ and on chromosome ___.dominant, 16
Neurocutaneous disorder, ash-leaf macules, infantile spasms, renal cysts, angiomyolipomas, cardiac rhabdomyomas, intellectual disability, autism, multiple ungual fibromas, facial angiofibromas, gingival and jaw fibromas...tuberous sclerosis
T/F - Tuberous sclerosis is caused by dysplasia and is autosomal dominant.T
___ ____ are smooth, firm, flesh colored lumps that emerge from nail folds. Present in Tuberous Sclerosis.ungual fibromas
Neurofibromatosis is autosomal ____ and on chromosome _________.dominant, 17
Neurofibromatosis occurs in 1 in ____ births.1 in 3000
Cafe-au-lait macules...neurofibromatosis
Neurocutaneous disorder with seizures, flesh-colored nodules...neurofibromatosis
Skin with flesh-colored nodules and mucosal neurofibromas, have the potential for malignant transformation...neurofibromatosis
Tuberous sclerosis has ___-pigmented areas. Neurofibromatosis has ___-pigmented areas.hypo, hyper (ash-leaf macules vs. cafe-au-lait macules)
Neurocutaneous disorder, cafe-au-lait macules, axillary freckles, flesh-colored nodules, mucosal neurofibromas, diffuse masses, CNS neural tumors, optic gliomas, adrenal pheochromocytoma, Lisch nodules, oral soft tissue and jaw neurofibromas ...neurofibromatosis
The axillary freckling in neurofibromatosis is called ___ sign.Crowe's sign
Beningn pigmented growths in the iris without any vision impairment...Lisch nodules
T/F - Marfan Syndrome occurs in every 1 in 3000-5000 births.T
Marfan Syndrome is autosomal ____ and on chromosome ___.dominant, 15 (fibrillin-1)
What do Jonathan Larson, Abraham Lincoln, and Julius Caesar have in common?Marfan Syndrome
What sign of Marfan syndrome does Luz have?arachnodactyly (long thin fingers)
Tall, long thin limb and fingers, skeletal defects, ectopia lentis, hypermobility, dissecting aortic aneurysm, valve prolapse, high-arched palate, micrognathia and malocclusion...Marfan Syndrome
Dislocation of the lens, called ectopia lentis, occurs frequently in which syndrome?Marfan syndrome
High-arched palate, micrognathia, malocclusion...Marfan syndrome
What is the MOST FREQUENT AUTOSOMAL DOMINANT disorder ever?familial hypercholesterolemia (okay maybe not EVER... but you know)
High cholesterol levels, specifically the low-density lipoprotein...familial hypercholesterolemia
Gene mutation in LDLR.familial hypercholesterolemia (the receptor for LDL, causes loss of feedback)
Familial hypercholesterolemia - _____ cholesterol >300mg/dl, _____ cholesterol > 600-1000 mg / dLheterozygous, homozygous
Premature atherosclerosis, MI, elevated plasma cholesterol, xanthomas, xathelasmas, carotid plaques, juvenile "corneal arcus" ...familial hypercholesterolemia
Bilateral, gray white or yellow circumferential deposits in the peripheral cornea, seen in familial hypercholesterolemia...corneal arcus
Light areas on skin around eyes, seen in familial hypercholesterolemia...xanthelasma
Put in order MOST COMMON to LEAST --- Turner, Klinefelter, Super Female, Down, Tuberous Sclerosis, Neurofibromatosis, Marfan, Familial Hypercholesterolemia.Down (old mom), FH, Down, Klinefelter, Super female, (Turner, Neurofibromatosis, Marfan) and Tuberous Sclerosis (Down 1;25, FH 1;500, Down 1;700, Kline 1;850, SF 1;1200, Turner and Neuro 1;3000, Marfan 1;3000-5000, TS 6;100k)


L1 Part 2
Question Answer
Most syndromes are autosomal _____. Can also be spontaneous mutation.dominant
Nevoid Basal Cell Carcinoma Syndrome is autosomal ____.dominant
Nevoid Basal Cell Carcinoma is a mutation on the PTCH1 gene on chromosome _________.9
Multiple odontogenic keratocysts.nevoid basal cell carcinoma syndrome
Multiple basal cell caresnevoid basal cell carcinoma syndrome
Bifid ribs.nevoid basal cell carcinoma syndrome (rib articulates with the sternum)
Multiple OKCs, basal cell cares, bifid ribs, calcification of the falx cerebri, palmar and plantar pits, hyperkeratosis, pigmented macules papules and plaques on trunk, frontal bossing, hypertelorism, strabismus, shortened metacarpals, skeletal anomalies and cysts.nevoid basal cell carcinoma
Multiple Odontogenic keratocyts.nevoid basal cell carcinoma syndrome
Abnormal depression of the chest bone, ribs are going inward - seen in nevoid basal cell carcinoma.pectus exvacatum
A normal person is a carrier for ___ autosomal recessive diseases.8
Dear Alabama, second cousins have a 1 in _________ of both being carriers of the SAME autosomal recessive disorder. Third cousins 1 in 128. 4th general population.32
A group of disorders characterized by deficiency of a specific single enzyme - leading to inborn errors of metabolism.autosomal recessive
Lysosomal storage diseases, PKU, albinism and cystic fibrosis are all examples of autosomal ___ diseases.recessive
Tay-Sachs, Gaucher, Niemann-Pick diseases and Hurler syndrome are all examples of ___ ____ diseases.lysosomal storage diseases
Error of glucocerebrosidase.Gaucher disease
Accumulation of glucocerebrosdies.Gaucher disease (accumulate in mononuclear phagocyte cell system and reticuloendothelial system)
Gaucher disease is 1 in ____.2500
Name a disease associated with Ashkenazic Jews.Gaucher Disease
The simultaneous enlargement of both the liver and the spleen. Associated with Gaucher Diseasehepatosplenomegaly (due to macrophages)
Gaucher Disease- ____ accumulates in reticular endothelium system in bone marrow, liver and spleen.glucocerebroside
Glucocerebroside is normally found in the _____. In Gaucher disease, it doesn't get broken down - glucosylceramide collects in macrophages.lysosome
Gaucher Disease- eleveation of liver enzymes and ___.ACE
Hepatosplenomegaly, bone lesions (including jaws), pulmonary disease, CNS disorders, and rarely enlarged lymph nodes.Gaucher disease
Elevation of ACE in blood is a sign of many many diseases. But the one we learned about is ...Gaucher disease
PKU occurs in 1 in ____ births in the US.10,000
PKU is autosomal ___.recessive
Phenylalanine hydroxylase is screwed up in ___.PKU
Mouse-like odor and fair skin.PKU (fair skin because low tyrosine)
Mental retardation due to hyperphenylalanemia.PKU
Albinism occurs 1 in ___.17,000
Albinism is autosomal _____, mostly.recessive (some X-linked ESPECIALLY for ocular type - red iris - choroidal vessels.)
Albinism - lacks ___.tyrosinase (melanin synthesis)
Albinism - increased risk of skin cancer, recurrent infection, ____-___ syndrome and Hermanski-Pudlack's syndrome.Chediak-Hiagashi
Cystic Fibrosis occurs in 1 in ____.2000 (mainly caucasians)
Cystic fibrosis is autosomal ___.recessive
Cystic fibrosis is defective CFTR gene on chromosome _________.7
A disorder of exocrine glands (respiratory, GI, endocrine) due to defect in Cl transport.cystic fibrosis
High NaCl in sweat is a diagnostic test for...cystic fibrosis
Chronic pulmonary disease, vitamin deficiencies, retarded bone growth...cystic fibrosis
Delayed sexual development and infertility in 98% of men, but only 10-25% in females.cystic fibrosis (vas deferens)
Salty sweat, dehydration with heat and infection, hyponatremia, hypocholermia, cardiac arrhythmias, chronic pulmonary disease, meconium ileus, abdominal pain, vitamin deficiencies, retarded bone growth, delayed sexual development, nasal polyps, parotid disease.cystic fibrosis
Characterized by lung congestion, infection, and malabsorption of nutrients by the pancreas.cystic fibrosis
Pancreas has ductal cystic dilation - leads to low Vit K - abnormal clotting.cystic fibrosis
Hunter syndrome, fabry disease, hemophilia, and Lesch-Nyhan syndrome are all...X-linked RECESSIVE disorders

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