Spring 2011Mid 2 Genetics Mch

Front 1

Damaged, missing, or extra copy of, chromosome. Ex. Down's Syndrome, Turner's.

Back 1

Chromosomal disorders

Front 2

Rare,
usually cause effect on function of the gene product.
Where the Single gene is necessary and sufficient to cause particular phenotypes.

Is this a Single Gene Disorder
or a
Multi gene disorder?
Ex.
Sickle Cell,
Cystic Fibrosis.
(Kliegman Ch 78)

Back 2

Single gene disorder

Front 3

Due to multiple genes or gene-environment effect. May cluster in families but will not show clear pattern of, inheritance. Ex. Neural tube defects.

Back 3

Multifactorial inherited disorder

Front 4

Caused by infection, chemical, radiation, or temperature. Ex. Fetal alcohol syndrome, nicotine babies, rubella babies, thalidomide babies,

Back 4

Teratogenic disorder

Front 5

Pyloric stenosis, congenital heart defects, musculoskeletal deformation, disruption defects caused by amniotic bands (part of, the fetal body loses blood supply and necroses)

Back 5

Unknown/unusual causes of, malformations

Front 6

Vertical child to parent showing in multiple generations,

2. Affected individual has 50% chance of, passing on gene at each pregnancy,

3. Males and females equally effected,

4. Unaffected individuals will not pass disorder on,

5. Male-to-male transmission

Back 6

Autosomal dominant inheritance

Front 7

Horizontal transmission showing multiple affected individuals in single generation but none in other generations,25% risk of, passing trait for parents with one affected child, males and females equally effected, increased frequency of, consanguinity

Back 7

Autosomal recessive inheritance

Front 8

1. Males more commonly and severely affected than females,

2. Female carriers generally unaffected,

3. Affected males will have carrier daughters but no affected
sons,

4. Carrier women have 25% risk of, affected son and 25% risk of, carrier daughter

Back 8

X-linked recessive inheritance:,

Front 9

Classify by type of,
inheritance the following single gene disorder:, Neurofibromatosis Type I

Back 9

Autosomal dominant

Front 10

Classify by type of inheritance the following single gene disorder:, Duchenne-Muscular Dystrophy:,

Back 10

X-linked recessive

Front 11

Classify by type of inheritance the following single gene disorder:, Sickle Cell Disease:,

Back 11

Autosomal recessive

Front 12

Be able to classify by type of inheritance the following single gene disorder:, Cystic fibrosis:,

Back 12

Autosomal recessive

Front 13

A trisomy (3 copies of an Autosome instead of 2) of, chromosome 21 moderate to severe mental retardation, characteristic facies, cardiac abnormalities, increased incidence of respiratory infections and leukemia

Back 13

Down Syndrome

Front 14

Severe mental retardation, multiple organic abnormalities. Less than 10% survive 1 year

Back 14

Trisomy 18 (Edward Syndrome)

Front 15

A trisomy of chromosome 13. Severe mental retardation, neurologic, ophthalmitic, and organic abnormalities. 5% survive 3 years

Back 15

Trisomy 13 (Patau Syndrome)

Front 16

Consumption of ?, Or more drinks daily throughout pregnancy confers what % risk of having a child with FAS?,

Back 16

8, 30-50%

Front 17

Growth restriction, shortened palpebral fissures, low set ears, midfacial hypoplasia, smooth philtrum, and a thin upper lip. Microcephaly, mental retardation, behavioral disorders such as ADD or increased aggressive behavior

Back 17

Fetal alcohol syndrome

Front 18

Explain why neural tube defects are classified as a multifactorial disorder.

Back 18

Recur in families but are not transmitted in any distinctive pattern. Folic acid deficiency has been associated.

Front 19

The role of, folic acid in reducing the risk of, neural tube defects.

Back 19

Reduces occurrence and recurrence of neural tube defects

Front 20

What might small for gestational age mean?,

Back 20

Chromosomal abnormality or teratogenic exposure

Front 21

Post maturity is associated with

Back 21

Chromosomal abnormalities, like trisomy 18

Front 22

Advanced maternal age may result in which trisomies?,

Back 22

All

Front 23

An increased amount of, amniotic fluid may be associated with

Back 23

Intestinal obstruction
or
CNS abnormality that leads to poor swallowing

Front 24

Eyes that are too close together is referred to as

Back 24

Hypotelorism

Front 25

Upward slanted palpebral fissures and/or epicanthal folds and/or a flattened nasal bridge could mean

Back 25

Down's syndrome

Front 26

Polydactyly is sometimes seen in which chromosomal nondisjunction?,

Back 26

Trisomy 13

Front 27

A transverse palmar crease is sometimes seen in what disease?,

Back 27

Downs

Front 28

Should be requested when a syndrome with a known chromosomal defect in which probes are available is suspected

Back 28

Fluorescent in situ hybridization

Front 29

Can be performed to identify specific mutations

Back 29

Direct DNA analysis

Front 30

3 reasons for an accurate diagnosis for the

Dysmorphic child

Back 30

Allay parental guilt,

anticipate problems,

promotes genetic counseling
to
understand the risk for future children.