Systems 1A - both cardio and resp

Question 1

Name the 6 characteristics associated with Noonan Syndrome.

Answer 1

pulmonary stenosis, cryptorchidism, neck webbing, PTPN11 gene deletion on chromosome 12, characteristic face, short stature

Question 2

Name the 3 genetic ‘Noonan-like’ syndromes.

Answer 2

Cranio-facial cutaneous syndrome (CFC), leopard syndrome and Costello Syndrome

Question 3

what are the symptoms of Leopard syndrome

Answer 3

Leopard syndrome is a Noonan like syndrome so will present with cryptorchidism, PTPN11 deletion, neck webbing but it will also present with pulmonary stenosis, multiple lentigenes and deafness.

Question 4

What are the symptoms of costello syndrome

Answer 4

malignancy, cardiomyopathy, warts and excess skin folds.

Question 5

what are the symptoms of CFC syndrome

Answer 5

Noonan like with ectodermal issues and developmental delay

Question 6

all of the noonan syndromes (Costello, leopard and CFC) are all affected by genetic abnormalities in the same pathway. what is the name of this pathway?

Answer 6

the Mitogen activated protein kinase (MAPK) pathway

Question 7

what condition cradiac genetic syndrome is thymic hypoplasia found?

Answer 7

22q11 deletion.

Question 8

name the symptoms of 22q11 deletion syndrome

Answer 8

CATCH22 
cardiac abnormalities
abnormal face
thymic hypoplasia
cleft palate
hypoparathyroidism 
22q11 deletion

Question 9

what are the psychiatric disorders which accompany 22q11 deletion?

Answer 9

schizophrenia
depression
bipolar affective disorder

Question 10

what two syndromes encompass 22q11 deletion syndrome?

Answer 10

DiGeorge and Shprintzen

Question 11

What are the symptoms in DiGeorge syndrome?

Answer 11

cardiac outflow tract malformation
thymic hypoplasia
hypoparathyroidism
(sporadic disease)

Question 12

how many clinical signs of 22q11 deletion are needed before a test should be carried out?

Answer 12

2 or features should be present before a test should be done.

Question 13

describe all of the characteristics of williams syndrome

Answer 13

characteristic face
5 finger clinodactyly 
hypercalcaemia
supravalvular aortic stenosis 
LIN kinase deletion
elastin deletion on chromosome 7

Question 14

what cardiac genetic syndrome will result in thymic hypoplasia and hypoparathyroidism with a cleft palate?

Answer 14

22q11 deletion

Question 15

what genetic syndrome will result in coarctation of the aorta, short stature, neck webbing, gonadal dynsfunction and puffy hands?

Answer 15

turner’s syndrome

Question 16

what chromosomal anomaly leads to Down’s syndrome and what are the 3 ways it can occur

Answer 16

trisomy of chromosome 21 and this can occur by maternal non-dysjunction, mosaic or a translocation.

Question 17

what are the 3 main symptoms of down’s syndrome

Answer 17

duodenal atresia, atrio-ventricular septal defects

Question 18

Name the genetic defects that result in cystic hygroma formation

Answer 18

Turner’s syndrome
Trisomy 21 (down’s syndrome)
Noonan syndrome

Question 19

how many chromosomes are found in an individual with turner’s syndrome?

Answer 19

45, X

Question 20

low copy repeat genes are an influence in 22q11 deletion syndrome. True or False?

Answer 20

true - the effects of deletions and translocations in 22q11 deletion syndrome are amplified due to LCR genes

Question 21

name 3 anticonvulsant drugs which may result in teratogenic effects on a fetus

Answer 21

valproate
phenytoin
carbamazepine

Question 22

what are the effects of anticonvulsants on a fetus?

Answer 22

characteristic face
developmental delay
malformation patterns

Question 23

Name 2 familial cardiomyopathy conditions

Answer 23

hypertrophic cardiomyopathy (r403q)
dilated cardiomyopathy (

Question 24

Marfans syndrome is a cardiovascular connective tissue disease true or false?

Answer 24

true. other cardiovascular connective tissue diseases include loeys-dietz and ehlers danlos

Question 25

what is pectus carinatum

Answer 25

protrusion of the anterior chest way

Question 26

what might the diagnosis be in a 13 year old child with a tall stature, lens subluxation, mild aortic dilatation and arachnodactyly be?

Answer 26

Marfan's syndrome

Question 27

what genetic cardiac syndrome with the deletion of the fibrillin 1 gene and 15q21 chromosome will present with aortic regurgitation

Answer 27

Marfans syndrome

Question 28

What criteria is used to diagnose Marfans syndrome?

Answer 28

2010 Ghent criteria

Question 29

how many system findings must be positive for a positive diagnosis of Marfans syndrome?

Answer 29

2 - these include CVS, eyes (ectopia lentis), systemic score, family Hx and fibrillin 1 mutation

Question 30

what are the systemic score criteria systems in the diagnosis of marfans syndrome?

Answer 30

``` skeletal system dural ectasia skin respiratory mitral valve prolapse myopia ```

Question 31

what are the 5 main Ghent criteria in Marfans Diagnosis?

Answer 31

``` Cardiovascular Eyes family Hx fibrillin 1 gene systemic score over 7 ```

Question 32

name 4 positive skeletal features in the systemic score of the ghent criteria (Marfans Syndrome)

Answer 32

- arm span greater than the height of individual - thumb height greater than the width of the wrist - scoliosis/kyphoscoliosis - pectus protrusio - reduced elbow extension