Perinciple conditions

Question 1

*Affects females
*Short stature
*Ovarian dysgenesis (amenorrhea and lack of puberty/secondary sexual characteristics, most infertile)
*Triangle face
*Posteriorly rotated ears
*Broad webbed neck
*Broad shield shaped chest
*Hand and feet lymphoedema

Answer 1

turner’s syndrome

Question 2

*Bicuspid aortic valve
*Coarctation of aorta

Answer 2

turner’s syndrome

Question 3

45X/45XO

Answer 3

turner’s syndrome

Question 4

only 1 x from mum absence y from dad

Answer 4

turner’s syndrome

Question 5

1 in 6000 births
*Gastrointestinal defects (such as esophageal atresia)
*Central Nervous System (CNS) defects
*Orofacial clefts
*Overlapping fingers
*Microphthalmia - eyes do not develop fully
*Radial aplasia/hypoplasia – affects radius

Answer 5

edward syndrome

Question 6

septal defects, PDA

Answer 6

edward syndrome

Question 7

horseshoe kidney

Answer 7

edward syndrome

Question 8

*Tall, long arms and legs
*Hypogonadism (reduced physiological activity of testes)
*Small testes
*Infertility
*Low testosterone levels
*Gynaecomastia seen in one third of affected persons (increased risk of breast cancer)
*Mild learning difficulties

Answer 8

klinefelter’s syndome

Question 9

non disjunction at birth causing XXY

Answer 9

klinefelter’s syndome

Question 10

autosomnal means

Answer 10

non sex

Question 11

*Depressed nasal root
*Upslanting palpebral fissures
*Brachycephaly
*Flat midface
*Short stature
*Redundant skin on the back of neck
*Short and broad hands and feet
*Single palmar crease
*Hypotonia

Answer 11

down’s syndrome

Question 12

what chromosome is down’s

Answer 12

21

Question 13

*Severe intellectual disability
*Heart defects
*Low set ears, brain or spinal cord defects
*Microphthalmia
*Extra fingers or toes (polydactyly)
*Cleft lip/palate
*Clenched hands (outer fingers on top of the inner)

Answer 13

patau’s syndrome

Question 14

*Affects females
*Short stature
*Ovarian dysgenesis (amenorrhea and lack of puberty/secondary sexual characteristics, most infertile)
*Triangle face
*Posteriorly rotated ears
*Broad webbed neck
*Broad shield shaped chest
*Hand and feet lymphoedema
3. *Bicuspid aortic valve
*Coarctation of aorta

Answer 14

turner’s syndome

Question 15

45X/45XO

Answer 15

turner’s syndrome

Question 16

only 1 x from mum absence y from dad

Answer 16

turner’s syndrome

Question 17

what chromosome is edwards

Answer 17

chromosome 18

Question 18

what trisonomy is patau’s

Answer 18

13

Question 19

what genetic pattern is fragile X dominant

Answer 19

x linked dominant

Question 20

what ae the signs for fragile X syndrome

Answer 20

*Intellectual disability
*Most frequent single genetic cause of autistic spectrum disorder
*Long faces
*Large ears
*Hypermobile joints
*More severe phenotype in males

Question 21

what mutation is myotonic dystrophy

Answer 21

dystrophy of protein kinase (DMPK) located on chromosome 19

Question 22

what genetic pattern is myotonic dysfunction

Answer 22

autosomnal dominant

Question 23

what amino acid is repeated in myotonic dystrophy

Answer 23

CTG triplet

Question 24

what gene is fragile x syndrome

Answer 24

FMR1

Question 25

3 Condtiotions where genetic anticipation seen

Answer 25

*Huntington’s disease
*Juvenile myoclonic epilepsy
*Friedreich’s ataxia

Question 26

aside from AS+PWS, name 2 conditions where imprinting goes wrong and describe

Answer 26

1.Beckwith - Wiedemann syndrome
- Overgrowth syndrome accompanied by an increased predisposition to cancer - large tongue, omphalocele (abdominal wall defect), hemihyperplasia (asymmetrical overgrowth), Wilms tumour and hepatoblastoma
2.Silver - Russell syndrome
-Clinically heterogeneous characterised by growth retardation (small for gestational age), proportionate short stature, body asymmetry, small, triangular-shaped face and prominent forehead

Question 27

2 examples of conditions fo mitochondial mutations

Answer 27

4. leber hereditary optic neuropathy- rapid loss of vision due to optic nerve death
5. myoclonic epilepsy w ragged fibre syndrome (MERRF) - epilepsy, dementia, ataxia, myopathy

Question 28

4 examples of genetic anticipation diseases

Answer 28

*myotonic dystrophy
*Huntington’s disease
*Juvenile myoclonic epilepsy
*Friedreich’s ataxia
* a phenomenon in which the signs and symptoms of genetic conditions become more severe and/or appear at an earlier age, as they are passed from one generation to the next

Question 29

what gene is affected myotonic dystrophy

Answer 29

DMPK1

Question 30

what is heteroplasmy

Answer 30

when some mitochondria have a mutation some don’t
or presence of more than one mtDNA type in an individual

Question 31

what causes charcot marie tooth

Answer 31

single nucleotide polymorphism

Question 32

what causes dejerine-sottas syndrome

Answer 32

Single nucleotide polymorphism

Question 33

what genetic pattern is oustiogenesis imperfecta

Answer 33

autosomnal dominant

Question 34

what a.a subs in sickle cell anemia

Answer 34

glutamic acid substitutes valine beta haemoglbin chain position 5