Genetics: Nontraditional Genetics: Block I

Front 1

The presence of a population of normal cells and a population of cells with a mutation:

Back 1

Mosaicism

Front 2

When an idividual who is phenotypically normal carries normal and mutated germ cells. Therefore the same mutation could be passed to more than one offspring:

Back 2

Germline Mosaicism

Front 3

Achondroplasia and Osteogenesis Imperfecta are examples of what?

Back 3

Germline Mosaicism

Front 4

Inheritance of both members of a chromosome pair from one parent - usually from the loss of a chromosome after trisomy

Back 4

Uniparental Disomy

Front 5

Abnormal expansion of trinucleotides in some individuals that can cause a number of genetic diseases:

Back 5

Trinucleotide Repeat Expansions - Caused by DNA slippage

Front 6

Name four diseases caused by trinucleotide repeat expansion:

Back 6

1. Fragile X-syndrome
2. Myotonic Dystrophy
3. Huntington Disease
4. Spino-bulbar muscular atrophy (X-linked)

Front 7

This disorder is caused by an expansion of CGG repeat in the 5' region of the FMR-1 gene:

Back 7

Fragile X syndrome (FRAX)

Front 8

The state in which the number of copies of CGG trinucleotide repeat is more than 45 but less than 230. There are no intellectual defecits in this group that includes carrier females and normal transmitting males.

Back 8

Premutation state of Fragile X Syndrome

Front 9

In FRAX exapnsion in the number of copies in the premutation can occur only through _______ in subsequent generations resulting in full mutation.

Back 9

Females

Front 10

What is the risk for females whose father has the fragile X premutation?

Back 10

There is no risk for mental retardation because there is no expansion of the gene in males.

Front 11

Name two conditions commonly caused by uniparental disomy and deletion of one parenal chromosome

Back 11

Prader Willi and Angelman's Syndromes

Front 12

This gene mutation or chromosome abnormality occurs in cells post conception and therefore is not inherited from either parent and cannot be passed down to the affected individual's children:

Back 12

Somatic Mosaicism

Front 13

If it occurs later in life _____ ______ may cause cancer.

Back 13

Somatic mosaicism

Front 14

This somatic mosaicicm is characterized by hemihypertrophy, subcutaneous tumors, and macrodactyly:

Back 14

Proteus Syndrome (what the elephant man, John Merrick, had).

Front 15

This example of somatic mosaicism is characterized by skin pigmentation, polyostotic fibrous dysplasia (PFD), and precocious puberty

Back 15

McCune-Albright Syndrome

Front 16

This condition is an example of somatic mosaicism characterized by deep set eyes, thick lips, prominent earsm and camptodactyly (deformity of the little finger):

Back 16

Trisomy 8

Front 17

An individual that is phenotypically normal carries normal and mutation carrying germ cells; therefore the mutation can be passed on to more than one offspring:

Back 17

Germline Mosaicism

Front 18

Prader Willi syndrome resulting from uniparental disomy inherits both chromosomes from which parent?

Back 18

Inherits both maternal chromosomes- deletion of parental chromosome

Front 19

This condition is characterized by mental retardation, severe hypotonia and poor suckling as infants, hyperphagia (leading to obesity), and dysmorphic features.

Back 19

Prader Willi Syndrome

Front 20

This disease is caused by uniparental disomy in which the child inherits two parental chromosomes 15 and the maternal chromosome is deleted.

Back 20

Angelman's Syndrome

Front 21

This disease is characterized by severe mental retardation, seizures, microcephaly, absence of speech, ataxic gait, and inappropriate laughter. How does this occur.

Back 21

Angelman's Syndrome- caused by inheritance of two paternal chromosome 15s and deletion of the maternal chromosome (uniparental disomy)

Front 22

Prader Willi and Angelman's syndromes are also examples of this, in which the genes are marked so that they are expressed differently when they have been inherited from the mother than from the father:

Back 22

Genomic Imprinting

Front 23

This disease is an example of uniparental disomy and is characterized by accelerated growth, omphalocele, macroglossia, and risk of intraabdominal malignancy.

Back 23

Beckwith Wiedmann Syndrome - caused by paternal uniparental disomy

Front 24

The most common heritable form of mental retardation, discovered in 1969, and characterized by intellectual deficits, behavioral abnormalities, altered facial phenotype and macro-orchidism.

Back 24

Fragile X Syndrome