Congenital Abnormalities

Question 1

What chromosomal abnormality seen in Down’s?

Answer 1

trisomy 21

Question 2

How common is Down’s syndrome?

Answer 2

1 in 1000 live births

most common autosomal trisomy

most common genetic cause of learning disability

Question 3

What are the features of Down’s?

Answer 3

Round Face

Brushfield spots in iris

Flat nasal bridge

Epicanthic folds

Protruding tongue

Flat occiput

Single Palmar crease

Sandal gap between toes

Hypotonia

Question 4

What are some conditions/diseases associated with Down’s?

Answer 4

endocardial cushion defect (c. 40%, also known as atrioventricular septal canal defects)

ventricular septal defect (c. 30%)

secundum atrial septal defect (c. 10%)

tetralogy of Fallot (c. 5%)

hirsprungs

duodenal stresia

Question 5

What are some conditions Down’s sufferers are more at risk for?

Answer 5

Alzheimer’s

Epilepsy

Hypothyroid

Coeliac

Cataracs

Conductive hearing loss

Leukaemia

Question 6

By what modes does the trisomy occur in Down’s?

Answer 6

Non-disjunction

Robertsonian translocation

Mosaicism

Question 7

What are the odds of a mother with a down’s child to have another?

Answer 7

if <35 = 1 in 100

Question 8

What chromosomal abnormality seen in Edward’s?

Answer 8

trisomy of chromosome 18

Question 9

What are the features of Edward’s?

Answer 9

Micrognathia

Low-set ears

Rocker bottom feet

Overlapping of fingers

cardiac and renal

Question 10

What chromosomal abnormality seen in Patau’s?

features?

Answer 10

T13

Microcephalic

small eyes

Cleft lip/palate

Polydactyly

Scalp lesions

Cardiac and Renal malform

Question 11

What is the chromosomal abnormality of Patau’s?

Answer 11

trisomy of chromosome 13

Question 12

What is the chromosomal abnormality seen in Turner’s?

Answer 12

45X, 45XO

Question 13

How can Turner’s be on antenatal USS?

Answer 13

fetal oedema

cystic hydroma

Question 14

What are some external features of Turner’s?

Answer 14

short stature

shield chest

widely spaced nipples

webbed neck

high-arched palate

short fourth metacarpal

multiple pigmented naevi

lymphoedema in neonates

Question 15

What are some long term conditions associated with Turner’s?

Answer 15

bicuspid aortic valve (15%)

coarctation of the aorta (5-10%)

hypothyroid

infertility

crohns

NORMAL INTELECTUAL FUNCTION

Question 16

acronym for Turners features?

Answer 16

CLOWNS

Cardiac abnorm - bicuspid aortic valve, coarctation of aorta

Lymphoedema

Ovaries not developed

Webbed neck

Nipples widely spaced

Short stature

Question 17

What is the chromosomal abnormality associated with Klinefelter’s?

Answer 17

47, XXY

Question 18

What are the features of Klinefelter’s?

Answer 18

infertility

hypogonadism

small testes

puberty may be normal

gynaecomastia

tall

intelligence in normal range

Question 19

What is the chromosomal abnormality associated with Fragile X?

Answer 19

gap or break in distal part of long arm of X chromosome

x-linked recessive

Question 20

How does Fragile X present?

Answer 20

depends on number of mutations - anticipation

female carriers have learning difficulties

males - moderate to severe learning difficulty

macrocephaly

macro-orchidism

long face

large ears

Question 21

What are some long term conditions associated with Fragile X?

Answer 21

mitral valve prolapse

joint laxity

scoliosis

autism

hyperactivity

Question 22

What is the mutation associated with Noonan syndrome?

Answer 22

autosomal dominant genes

Question 23

What are the features of Noonan’s?

Answer 23

similar to turners
affects males and females

Webbed neck

Pectus excavatum

Short stature

Short broad nose

Low set ears

Question 24

What heart disease associated with Noonan’s?

Answer 24

Pulmonary stenosis

Question 25

What is the chromosomal abnormality associated with William’s?

Answer 25

deletion of genetic material from a specific region of chromosome 7

Question 26

How does William’s present?

Answer 26

Short stature

Learning difficulties

Friendly, extrovert personality

wide spaced, missing or crooked teeth

Question 27

What are some conditions associated with William#s?

Answer 27

supravalvuvular aortic stenosis

transient neonatal hypercalcaemia

Question 28

What are the chromosomal abnormalities associated with Prader-Willi?

Answer 28

mater loss of function from chromosome 15

Question 29

What are some features of Prader-Willi?

Answer 29

eyes that cross or wander

developmetal delay

hypotonia

hypogonadism

learning difficulty

failure to thrive

obesity (problems with food control)