Genetic Disorders - Chromosomal Disorders

Question 1

Down syndrome

Answer 1

Trisomy 21

Question 2

Trisomy 21

Answer 2

Down Syndrome

Question 3

What is the most common chromosomal disorder?

Answer 3

Trisomy 21

Question 4

The extra chromosome with Trisomy 21 is usually from which parent and due to?

Answer 4

Mother

- Meiotic Nondisjunction

Question 5

What as a strong influence on developing trisomy 21?

Answer 5

Maternal age

• less than 20
• older than 45 = 1/25 chance

Question 6

Mosaics of Trisomy 21 have cells with?

Answer 6

Some cells with 46 chromosomes and some cells with 47 chromosomes = milder disease

Question 7

Symptoms of Trisomy 21?

Answer 7

Flat face
Oblique palpebral fissures
Epicanthic folds
Low IQ

Question 8

Flat face
Oblique palpebral fissues
Epicanthic folds
Low IQ

Answer 8

Trisomy 21

Question 9

What causes most childhood deaths with trisomy 21?

Answer 9

Congenital heart diseases

- AVSD, VSD, tetralogy of fallot

Question 10

What 2 cancers are trisomy 21 patients at a higher risk of developing?

Answer 10

Acute myeloid leukemia

Acute B lymphoblastic leukemia

Question 11

Virtually all trisomy 21 patients that are older than 40 will get?

Answer 11

Alzheimer’s

Question 12

What infections are trisomy 21 patients at risk for?

Answer 12

Lung and thyroid

Question 13

With trisomy 21, gene dosage imbalance with overexpressed coding genes on chromosome 21 leads to?

Answer 13

• Lots of amyloid beta = Alzheimer’s

- High density of lncRNAs

Question 14

Trisomy 18

Answer 14

Edwards syndrome

Question 15

Edwards syndrome

Answer 15

Trisomy 18

Question 16

symptoms of Trisomy 18?

Answer 16

Overlapping fingers, short neck, low set ears, rocker bottom feet, horseshoe kidney

Question 17

symptoms of Trisomy 18?

Answer 17

Overlapping fingers, short neck, low set ears, rocker bottom feet, horseshoe kidney

Question 18

Trisomy 13

Answer 18

Patau Syndrome

Question 19

Patau Syndome

Answer 19

Trisomy 13

Question 20

symptoms of Trisomy 13?

Answer 20

Polydactyly, cleft lip/palate, microcephaly, rocker bottom feet, renal defects

Question 21

symptoms of Trisomy 13?

Answer 21

Polydactyly, cleft lip/palate, microcephaly, rocker bottom feet, renal defects

Question 22

What 2 syndromes are caused by chromosome 22q11.2 deletion?

Answer 22

DiGeorge Syndrome

Velocardiofacial Syndrome

Question 23

DiGeorge Syndrome and Velocardiofacial Syndrome are caused by?

Answer 23

Deletion of 22q11.2

Question 24

Those with deletion of 22q11.2 long arm are at risk for?

Answer 24

Psychotic illnesses - bipolar, schizophrenia, ADHD

Question 25

2 main symptoms of DiGeorge Syndrome?

Answer 25

T cell immunodeficiency (thymus hypoplasia) | Hypocalcemia (parathyroid hypoplasia)

Question 26

What organs undergo hypoplasia with DiGeorge Syndrome?

Answer 26

``` Thymus = T cell immunodeficiency Parathyroid = Hypocalcemia ```

Question 27

Facial features of Velocardiofacial Syndrome?

Answer 27

Prominent nose, cleft palate, long face, retrognathia, over folded helix of ear

Question 28

Besides facial features of Velocardiofacial Syndrome, what other manifestations do they have?

Answer 28

Cardiovascular anomalies and learning disabilities

Question 29

T cell immunodeficiency and Hypocalcemia

Answer 29

DiGeorge Syndrome - deletion of 22q11.2

Question 30

Facial dysmorphism, long face with over folded ears and cleft palate and cardiovascular anomalies

Answer 30

Velocardiofacial Syndrome - deletion of 22q11.2

Question 31

Polydactyly, umbilical hernia, microcephaly with cleft lip

Answer 31

Trisomy 13 - patau syndrome

Question 32

Overlapping fingers, short neck, low set ears, horseshoe kidney

Answer 32

Trisomy 18 - edwards syndrome

Question 33

Flat face, oblique palpebral fissures, epicanthic folds

Answer 33

Trisomy 21 - Down syndrome