Genetic Syndromes Gral

Front 1

What type of inheritance is Achondroplasia?

Back 1

(Dwarfism): Autosomal Dominant (caused by de novo mutations in germline mosaicism or advanced paternal age)

Front 2

What is mutated gene in Achondroplasia

Back 2

FGFR3 gene mutation: Transmembrane Tyrosine Kinase Receptor

Front 3

What has the phenotype Prenatal onset, Rhizomelic short stature, megalenchephaly, and Spinal cord compression?

Back 3

Phenotype of Achondroplasia (dwarfism)

Front 4

What 2 genes are affected in hereditary Breast and Ovarian Cancer?

Back 4

BRCA 1 and 2

Front 5

What is the inheritance pattern for the BRCA 1 and 2 genes?

Back 5

Autosomal dominant with incomplete penetrance. (Tumor suppression Gene, Two-Hit mutation)

Front 6

What is the phenotype of Mylogenous Leukemia?

Back 6

Leukemia: Leukocytosis, splenomegaly, fatigue, Blast Crisis fatal;

Front 7

What is the translocated chromosome in Chronic Myelogenous Leukemia?

Back 7

Philadelphia Chromosome

Front 8

What is a Philadelphia Chromosome?

Back 8

Translocation between chromosome 9 and 22 affecting the ABL and BCR gene regions. Causes Chronic Myelogenous Leukemia

Front 9

What is the inheritance pattern for Chronic Myelogenous Leukemia?

Back 9

Somatic mutation and can not be inherited

Front 10

What is the inheritance pattern for Cystic Fibrosis?

Back 10

Autosomal Recessive

Front 11

What gene is affected by Cystic Fibrosis?

Back 11

CFTR gene on chromosome 7q31 which codes for a protein that is a regulated CL- channel located in the apical membrane of the epithelial cells.

Front 12

What is the most common mutation allele for the CF gene?

Back 12

del F508

Front 13

What is included in the phenotype for cystic fibrosis?

Back 13

Pulmonary disease, pancreatic insufficiency, sweat chloride, and neonatal onset.

Front 14

What is the inheritance for Duchenne Muscular Dystrophy?

Back 14

X-linked recessive inheritance (de novo mutation)

Front 15

What is the genetic mutation for duchenne muscular dystrophy?

Back 15

DMD Mutation (deletions and duplications) which normally encodes for the protein dystrophin.

Front 16

What is a positive Gower sign and what syndrome is it associated with?

Back 16

This is a specific getting up routine in which the child uses the upper extremity to help himself. Suggests severe impairment of lower extremity muscles. Associated with Duchenne's Muscular dystrophy.

Front 17

What type of gene is contributes to Familial Adenomatous Polyposis (FAP)?

Back 17

A Tumor Suppression gene mutation is associated with this cancer. Specifically the APC tumor suppressor gene.

Front 18

What is the inheritance pattern for familial adenomatous polyposis (FAP)?

Back 18

autosomal dominant (Two-hit mutation)

Front 19

What is the phenotype for familial adenomatous polyposis?

Back 19

an enormous amount of polyps in the colon and colorectacl cancer.

Front 20

What type of inheritance does Familial hypercholestrolemia have?

Back 20

autosomal dominant, with environmental modifiers

Front 21

Where is the mutation for familial hypercholesterolism?

Back 21

Mutation in the LDL Receptor mutation causes this disorder of cholesterol and lipid metabolism.

Front 22

What is the phenotype for familial hypercholesterolism?

Back 22

hypercholesterolemia, atherosclerosis, Xanthomas, Arcus cornea

Front 23

What is the phenotype for Fragile X syndrome?

Back 23

mental retardation, dysmorphic facies, male macroorchidism (abnormally large testes)

Front 24

How is Fragile X Syndrome inherited?

Back 24

X-Linked recessive

Front 25

What is the mutation associated with Fragile X Syndrome?

Back 25

FMR1 Mutation which is a triplet repeat expansion with hypermethylation leading to loss of expression.

Front 26

What is the inheritance pattern for hemophilia?

Back 26

X-Linked recessive disorder

Front 27

What is the mutation associated with hemophilia A and B?

Back 27

F8C or F9 mutation (factor 8 or 9) [del, ins, point mutations, inv]

Front 28

What is the phenotype for hemophilia?

Back 28

Bleeding diathesis, hemarthroses, hematomas

Front 29

What is a curative therapy for Chronic myelogenous Leukemia?

Back 29

allogeneic bone marrow transplantation

Front 30

What type of cancer gene contributes to chronic myelogenous leukemia?

Back 30

oncogene. Specifically the BCR-ABL (fusion protein) oncogene

Front 31

What type of gene contributes to hereditary nonpolyposis colon cancer and which gene specifically? (of the three types of genes contributing to cancer)

Back 31

This is a DNA mismatch repair gene cancer. Specifically MSH2 and MSL1 among others.

Front 32

What type of inheritance pattern does hereditary nonpolyposis colon cancer have?

Back 32

Autosomal dominant with incomplete penetrance

Front 33

What phenotypes are associated with Hereditary Nonpolyposis Colon Cancer?

Back 33

Has variable expressivity. Colorectal cancer with increased risks of endometrial, stomach, biliary tract and other cancers.

Front 34

What is the inheritance pattern for Huntington Disease?

Back 34

Autosomal Dominant

Front 35

What is the phenotype for Huntington disease?

Back 35

The phenotype for this neurodegenerative disease includes motor, cognitive, psychiatric abnormalities

Front 36

What mutation is Huntington's Disease caused by?

Back 36

the HD mutation is a triplet repeat expansion.

Front 37

How is Marfan Syndrome inherited?

Back 37

Autosomal dominant

Front 38

What mutation is associated with the connective tissue disorder, Marfan Syndrome?

Back 38

Mutation in Fibrilli-1 gene

Front 39

What is the phenotype for Marfan Syndrome

Back 39

Multisystem: skeletal (scoliosis, disproportionately tall, joint laxity); ocular (extopia lentis, flat corneas) cardiovascular (mitral valve prolapse, aortic problems); pulmonary (spontaneous pneumo-thorax and apical blebs); skin (striae atrophicae, recurrent herniae); dural (lumbosacral extasia)...phenotypes consistent within families but severities vary.

Front 40

What is the major cause of premature death for Marfan Syndrome?

Back 40

heart failure

Front 41

What is the genetic cause of Miller Dieker Syndrome and how is this diagnosed?

Back 41

hemizygous deletion on Chromosome 17p13 (LIS 1 gene) and diagnosed via FISH

Front 42

What is the phenotype for Miller-Dieker Syndrome?

Back 42

Lissencephaly (smooth-brain); facial dysmorphism, global mental deficiency, early death, seizures

Front 43

How is Myclonic Epilepsy with Ragged-red Fibers inherited?

Back 43

Matrilineal, mitochondrial DNA

Front 44

What is the phenotype associated with Myclonic Epilepsy with Ragged-red Fibers?

Back 44

dementia, myopathy, myclonic seizures, ataxia, deafness.

Front 45

How is retinoblastoma inherited?

Back 45

Autosomal Dominant

Front 46

What type of gene contributes to retinoblastoma?

Back 46

tumor suppressor gene (Rb mutation); follows two hit mechanism

Front 47

What typically differentiates sporadic from familial retinoblastoma?

Back 47

Familial- Bilateral, multiple tumors, early onset (w/in first year), in germline
Sporadic- Unilateral, single tumor, later onset

Front 48

What is the phenotype for Sex Reversal?

Back 48

Sterility, reduced secondary sexual features, unambiguous genitalia

Front 49

What is the genetic basis for Sex Reversal?

Back 49

Chromosomal or Y-Linked inheritance (caused by an SRY on an X chromosome) mutation, deletion or translocation.

Front 50

How can Sex Reveral be diagnosed?

Back 50

FISH

Front 51

How is Tay-Sachs Disease inherited and what population is it associated with?

Back 51

Autosomal Recessive in Ashkenazic Jewish population

Front 52

What is the mutation causing Tay-Sachs disease?

Back 52

HEXA mutation affecting ganglioside metabolism

Front 53

What is the phenotype for Tay-Sachs disease?

Back 53

Neurodegeneration, retinal Cherry-redspot, psychosis

Front 54

How is thrombophilia inherited?

Back 54

Autosomal Dominant

Front 55

What genes are mutated in thrombophilia

Back 55

There is a gain of function for the FV gene and a loss of function of the PROC gene

Front 56

What is the phenotype for Thrombophilia?

Back 56

deep vein thrombosis (blood clot)

Front 57

What event leads to Turner Syndrome?

Back 57

X monosomy and variants. Due to nondisjunction

Front 58

What is the phenotype for Turner Syndrome?

Back 58

short stature, ovarian dysgenesis, sexual immaturity, congenital lymphedema, infertility, web neck in adults, coarctation of aorta

Front 59

What treatment is involved with Turner Syndrome?

Back 59

parent counseling, growth hormone, estrogen and progesterone

Front 60

What other disorder is associated with the same chromosomal mutation as Prader-Willi Syndrome and how do these two differ genetically?

Back 60

Angelman Syndrome- The absence of maternally derived 15q11-q13 (by maternal del of 15q11-q13, or paternal uniparent disomy of chromosome 15s)

Prader-Willi- the absence of paternally derived 15q11-q13. (by paternal del, or maternal uniparental disomy of chromosome 15s)

Front 61

What is the phenotype for Prader Willi Syndrome

Back 61

infantile feeding difficulties, hyperphagia, obesity, hypotonia, cognitive impairment, sterility, dysmorphism

Front 62

What is the major cause of morbidity for the Prader-Willi syndrome?

Back 62

Obesity including cardiopulmonary disease and type 2 diabetes mellitus