robbypowell's version from 2015-10-14 11:08

genetic & developmental

Question Answer
what genetic disease was Abraham Lincoln though to have hadMarfan's Syndrome
Definition: the study of developmental abnormalitiesTeratology
what % of birth defects are due to unknown causes70%
How many pairs of Autosomal Chromosomes do normal humans have?22 (23 pairs chromosomes total, 1 of the pairs is a sex chromosome)
How many pairs of sex chromosomes do normal humans have?1 pair (23 pairs chromosomes total, 22 are autosomal)
A DIPLOID human has ___ chromosomes (#)46 (Normal)(2 sets of 23)
Definition: a chromosome number that is not a multiple of 23, my result from “non-disjunction” during meiosis or mitosisANEU-ploidy
Definition: specific sequence of nucleotides located at a precise location (locus) of the DNA strandGENE
It is estimated that the human genome consists of ____ genes (#)30,000
It is estimated that each human chromosome has approximately ____ (#) genes650 per chromosome
Definition: structural or functional information encoded by a geneTrait (genetic)
Definition: a specific location on a chromosome in which a gene residesLocus
T/F: A gene for a specific trait must remain at the normal locus to function normallyTrue
Two different genes at the same locus on the pair of chromosomesHeterozygous
Two copies of the same gene at their locus on each of the pair of chromosomesHomozygous
A ____ type of gene will only be expressed in a homozygous patternRecessive
A ____ type of gene will express even in a heterozygous patternDominant
Are there any special genes on the Y chromosome?NO (there are no Y-linked diseases)
What is the sex of someone with 2 X chromosomes?Female
What is the sex of someone with an X & Y chromosome?Male
Each cell in a Woman’s body has 2 X chromosomes, one is inactivated and clumped into a ball-like structure attached to the nuclear membrane, this is called a ___ ___Barr body
Is genetic information from the Barr body expressed?NO (one of the two X chromosomes is deactivated and clumped against nuclear membrane)
Trait that seems to run thru families, but cannot be proven to be inheritedFamilial "Trait"
The type of trait that is passed to the children via the parents’ genes.Inherited (genetic/hereditary)
trait or disease in an individual who is born of normal parentsSpontaneous Mutation
a disease that is present at birth, which is not necessarily inheritedCongenital Disease
T/F: All Inherited diseases are congenital diseasesFalse (Huntington's Chorea is inherited, but does not manifest until after 30)
A ____ implies a single gene for multiple anomalies in anatomically distant organsSyndrome
Definition: the number and condition of the complete set of chromosomesKaryotype
The gender of a child is determined by the gametes of which parent?Father
Single-gene (monogenic) disorders are also called ____ disordersMENDELIAN disorders
Numeric or structural disorders of the chromosomes are called ___ disordersChromosomal disorders
T/F: Errors of morphogenesis are the most common type of birth defectTrue
Complete absence of an organ primordium during development (Example: Acephaly)Agenesis (morphogenesis disorder)
Morphogenetic malformation where the head does not formAcephaly
Morphogenetic malformation where teeth do not form (general term)Anodontia
(lack of formation) Absence of the organ w/ persistence of the organ analogue or rudiment that never completely formed is called ____Aplasia
reduced size of an organ due to incomplete development is called ____Hypoplasia
Micropthalmia is a _____ morphogenetic disorder leading to reduced size in one or both of the ____Hypoplasia; Eyes
Micropthalmia (eye), Micrognathia (jaw), & Microcephaly are all examples of what type of morphogenetic disorder?Hypoplasia
____ ____ are defects from failure to fuseDysraphic Anomalies (ex. Spina Bifida)
____ _____ results in persistence of vestigial embryonic structure (should have regressed before birth)Involution Failure (ex: thryogossal duct)
Failure of vertebral bodies to fuse during development allows for the Meningeal membrane to pouch out of the lower back leads to what Dysraphic condition?Spina Bifida
What type of Spina Bifida has only a surface deformation with no pouching outward?Spina Bifida Occulta
What type of Spina Bifida has an outpouching but an unaffected Spinal Cord?Meningocele
What type of Spina Bifida is the most extreme and has an outpouch with Spinal Cord Involvement?Myelo-meningocele
Disturbance of morphogenic process leading to defects caused by incomplete cleavageDivision Failure (Syndactly, fused)
fused or "webbed" fingers is called ____Syndactyly (fused fingers)
overactive apoptotic cleavage process leading to multiple fingers is called ____Polydactyly (many fingers)
incomplete formation of a lumen (disturbance of morphogenesis)Atresia (ex. Esophageal Atresia)
Morphogenetic malformation where esophagus leads into trachea is calledEsophageal Atresia
Developmental Abnormal organization of cells into tissues (during embryogenesis)Developmental Dysplasia
Organ/Tissue developing in an abnormal siteEctopia
4 types of Abnormalities in sex chromosomesTurner, Klinefelter, Super-male & Super-female
Chromosomal abnormality where patient has Short stature, Lack of menses, Lack of breasts, heart defects & webbed neckTurner Syndrome (single X chromosome) (1:30,000)
What 2 type of sex Chromosomal Abnormalites have increased risk with older mothers?Klinefelter Syndrome, Super-female Syndrome
Chromosomal Abnormality where patient has Tall body, Large breasts, & Small testes (Dental findings: Taurodontism, jaw prognathism))Klinefelter syndrome (XXY)
What is Mosaicism in Turner Syndrome?Some cells are normal, with 46 pairs of chromosomes... some cells have 45 pairs with a defective X chromosome
Taurodontism is associated with what Chromosomal Disorders?Klinefelter Disorder, Super-female disorder
Males with bar bodies most likely have what Chromosomal disorder?Klinefelter disorder
condition found in the molar teeth of humans whereby the body of the tooth and pulp chamber is enlarged vertically at the expense of the roots.Taurodontism
Chromosomal abnormality where patient appears phenotypically normal, but tall, with acne and commonly more aggressiveSuper-male (XYY)
Female with multiple bar bodies likely has what chromosomal disorder?Super-female syndrome
What is the most common Autosomal chromosomal disorder?Down's Syndrome
What autosomal abnormality is results from Trisomy 21?Down's Syndrome
1 out of every ____ births where the mother is over the age of 45, the child has Down's Syndrome1:25 (4%)
Non-disjunction during Meiosis leads to ___TRISOMY
Chromosomal disorder resulting in Brachycephaly, Macroglossia, Brushfield spots on Iris, & CardiomegalyDown's Syndrome
Risk of Down's Syndrome increases drastically when the mother reaches ___ yo.45 years old
Chromosomal Translocation in Down's Syndrome is most frequently associated with which elder parent?Father (yeah, really)
most common group of conditions (implies both genetic & environmental factors)Multifactorial or Polygenic (ex. hypertension, diabetes mellitus, hypercholesterolemia)
Hereditary defect, characterized by a point mutation in which a single nucleotide base is replaced by a different baseMendelian or Monogenic (single-gene) defects
If there is a defective gene w/ dominant feature residing on an autosome →Autosomal Dominant disease
If there is a defective gene w/ recessive feature residing on an autosome →Autosomal recessive disease
If there is a defective gene w/ dominant feature residing on an X-chromosome →X-linked dominant disease
If there is a defective gene w/ recessive feature residing on an X-chromosome →X-linked recessive disease
Does the sex determine whether an Autosomal Dominant disorder will manifest?NO
(Dysplasic) Autosomal dominant disorder, defective gene mapped to chromosome #16 (WITH intellectual impairment)... Clinical features: Ash leaf macules on the skin, Facial Angiofibromas, Renal AngiomyolipomasTuberous Sclerosis
(Dysplasic) Autosomal dominant disorder, defective gene mapped to chromosome # 17 (without intellectual impairment)... Clinical features: Skin w/ flesh-colored nodules and mucosal neurofibromas, Lisch Nodules, Cafè-au-lait maculesNeurofibromatosis (NF1)
The defective gene associated with Tuberous Sclerosis is on chromosome # ___16
The defective gene associated with Neurofibromatosis is on chromosome # ___17
Benign pigmented growths in the iris (without vision impairment) are called ___ ___ and associated with ____ (disorder)Lisch Nodules; Neurofibromatosis
Autosomal dominant disorder, defective gene (FBN 1) mapped to chromosome #15Marfan's Syndrome
Autosomal dominant disorder that manifests with arachnodactyly, aortic aneurism, & hyper mobility of jointsMarfan's Syndrome
The defective gene associated with Marfan's syndrome is on chromosome # ___15
What is the genetic disorder involving a matrix glycoprotein “fibrillin-1”?Marfan's Syndrome
What gene is defective in Marfan's syndrome?FBN1
What is the genetic disorder associated with the LDL receptor?Familial Hypercholesteremia
What is the most frequent Mendelian disorder? (autosomal dominant)Familial Hypercholesteremia
Familial Hypercholesteremia is associated with the elevation of what type of cholesterol in the plasma?LDL cholesterol
What Autosomal Dominant disorder is associated with Juvenile "Corneal Arcus" & Xanthelomas?Familial Hypercholesteremia
Bilateral gray, white, or yellowish circumferential deposits in the peripheral corneaCorneal Arcus
Definition: cutaneous manifestations of lipidosis in which lipids accumulate in large foam cells within the skinXanthomas
Definition: sharply demarcated yellowish deposit of fat underneath the skin, usually on or around the eyelidsXanthelasma
Definition: A single gene defect responsible for multiple anomalies in anatomically distant organsSyndrome (genetic)
What disorder is associated with a mutation in PTCH1 gene on chromosome #9Nevoid Basal Cell Carcinoma Syndrome (Gorlin-Goltz Syndrome)****
What disorder is associated with multiple Basal Cell carcinomas, Calcification of the Falx Cerebri***, & Odontogenic Keratocysts?Nevoid Basal Cell Carcinoma Syndrome (Gorlin-Getz)***
Each normal person is a carrier for ___ (#) Autosomal Recessive diseases on average8
Second cousins have a 1 in ___ chance of both being carriers of the same Autosomal Recessive diseases1/32
Third cousins have a 1 in ___ chance of both being carriers of the same Autosomal Recessive diseases1/128
In people with ____ disease, as a result of glucocerebrosidase deficiency, glucosylceramide collects in scavenger cells of the bodyGaucher disease
Autosomal Recessive disorder caused by a deficiency of an important enzyme in the body called glucocerebrosidaseGaucher disease
In Gaucher disease, Glucosylceramide collects in what types of cells?Macrophages (spleen, liver, pancreas)
What accumulates in scavenger cells of patients with Gaucher disease?Glucosylceramide
What autosomal recessive disease is associated with elevated ACE in the blood?Gaucher disease
What autosomal recessive disorder is associated wit Hepatosplenomegaly?Gaucher disease
What autosomal recessive disorder occurs in babies who inherit two mutant genes for the enzyme phenylalanine hydroxylase (PAH)?Phenylketonuria
Phenylketonuria is an autosomal recessive disorder with a defective ___ ___ enzymePhenylalanine Hydroxylase (PAH)
What autosomal recessive disorder is associated with Tyrosinase enzyme?Albinism
Hermanski-Pudlak's syndrome is associated with Albinism and is characterized by susceptibility to what?Bruising and bleeding
Chédiak-Hiagashi syndrome is associated with Albinism and is characterized by susceptibility to what?Recurrent infection (due to abnormal immunity)
Cystic fibrosis manifests as a mutation on the ___ gene on chromosome # ___CFTR gene; Chromosome 7
What is the name of the disorder of exocrine glands (Respiratory, GI & eccrine) due to defect in Cl-transport?Cystic Fibrosis
What disorder is associated with abnormally salty sweat?Cystic Fibrosis
In Cystic Fibrosis Cl- is retained in epithelial cells of ___ & ___ passages, but not in ductal cells in ___ glands where it is instead failed to be reabsorbed.Pulmonary; Gastrointestinal...; Sweat
Chronic pulmonary disease and Vitamin deficiency is associated with what Autosomal Recessive disorder?Cystic Fibrosis
Cystic Fibrosis is associated with malabsorption of nutrients by the ___Pancreas
Obstruction of the distal portion of the Ileum in neonates is called ___ ___and usually associated with what disorder?Meconeum Ileus; Cystic Fibrosis
What are 4 examples of X-linked (Sex-linked) Recessive disorders?Hunter syndrome, Fabry disease, Classic Hemophilia, & Lesch-Nyhan syndrome
benign excessive accumulation of cells that are normally found in a tissue, but are arranged in an abnormal mannerHamartoma
Benign Aggregates of normal tissue components in aberrant locationsChoristoma or heterotopias
benign tumor derived from more than one or from all embryonic layersTeratoma
Hemangiomas & Cystic hygromas (lymphangiomas) are examples of what type of benign tumor growth?Hamartomas
What is the most common malignant tumor of early childhood?Lymphoblastic Leukemia
What is the most common solid head & neck cancer in children?Rhabdomyosarcoma


Question Answer
What is the prevalence of Gaucher disease?1:2,500
What is the prevalence of Marfan's syndrome1 out of every 3,000-5,000
What is the prevalence of Turner Syndrome?1:3,000 female births
What is the prevalence of Tuberous Sclerosis?6:100,000
What is the prevalence of Neurofibromatosis?1:3,000 live births
What is the prevalence (of all births) of Down's Syndrome1:700 live births
What is the prevalence of Super-female disorder?1;1,200 female births
What is the prevalence of Klinefelter syndrome?1:850 male births
What is the prevalence of Phenylketonuria?1:10,000
What is the prevalence of Cystic Fibrosis?1:2,000 (mainly whites)

chromosomal disorders by karyotype

Question Answer
Karyotype = 45,XTurner Syndrome
Karyotype = 47,XXY or 48,XXXYKlinefelter syndrome
Karyotype = 47, XY,21Down syndrome
Karyotype = 46,XYNormal male
Karyotype = 46,XXNormal female

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