week 8

Question 1

Down Syndrome MoI+ mutation

Answer 1

MoI: Numerical chromosomal abnormality
Mutation: 47, XX/XY, +21

Question 2

CM of Down Syndrome

Answer 2

1) **Intellectual Disability **
2) Distinctive Facial Features: Round flat face, straight fine thin hair, protruding tongue, upward slanting fissures with epicanthic folds, small flat nose
3) Single palmar crease
4) Hypotonia
5) 40% congenital heart defects, 5% gastrointestinal abnormalities, 20% increased risk for leukaemia, susceptibility to infections, cataract, thyroid dysfunction (hypothyroidism), premature aging with risk for early onset dementia

Question 3

Edward syndrome Mutation

Answer 3

Trisomy 18
47, XY/XX, +18

Question 4

CM of Edwards syndrome

Answer 4

Multiple severe congenital malformations:
1) microcephaly with abnormal shape,
2) micrognathia,
3) cleft lip/palate,
4) exomphalos,
5) severe intellectual and growth retardation

Question 5

Patau syndrome mutation

Answer 5

Trisomy 13
47, XX/XY,+13

Question 6

CM of Patau syndrome

Answer 6

Craniofacial abnormalities:
1) Holoprosencephaly,
2) abnormal skull development,
3) cleft lip/palate,
4)** hypotelorismor even fused eyes**,
5) polydactyly (> 5 fingers),
6) severe intellectual and growth retardation,

Question 7

Klinefelter Syndrome Mutation

Answer 7

Trisomy 47, XXY

Question 8

CM of Klinefelter syndrome

Answer 8

1) Gynacomastia
2) tall stature
3) Azoospermia (smal testis)
4) varires degress of hypogonadisim (hypertrophic hypogonadisim)
5) learning difficulties/ antisocial (not frequent)
6) increased risk of breast cancer, DM, CVD, GI and respiatory issues

Question 9

Turner Syndrome mutation

Answer 9

Monosomy, 45, X
(ass w/ genetic mosaicism)

Question 10

CM of Turner Syndrome

Answer 10

1) Coaractation of the aorta
2) short stature
3) mean IQ 90
4) Infertility
5) Webbed neck
6) Gonadal dysgenisis
7) low prosterior hairline
8) hoerseshoe kideney
9) primary Amenorrhoea

Question 11

Cri du Chat Syndrome MoI and mutation

Answer 11

mutation: Micro-intersitial deletion
Mutation: in Δ5p

Question 12

CM of Cri du Chat Syndrome

Answer 12

1) high-pitched cat-like cry
2) intellectual disability
3) distinctive facial features, small head size (microcephaly),
4) widelyspaced eyes (hypertelorism)
5) low birth weight and weak muscle tone (hypotonia) in infancy.

Question 13

Detection method for microdeletion (< 3-5 Mb)

Answer 13

Detection by FISH or array-CGH (Comparative Genomic Hybridization)

Question 14

Kleefstra Syndrome MoI and Mutation

Answer 14

MoI: micro-deletion
Mutation: on Δ9q34.3

(25% intergenic EHMT1 mutations)

Question 15

CM of Kleefstra Syndrome

Answer 15

Clinical features:
1) Craniofacial dysmorphism
2) Microcephaly
3) MR with severe speech delay
4) Epilepsy
5) Hypotonia
6) Obesity

Question 16

William Syndrome MoI and mutation

Answer 16

MoI : Microdeletion
Mutation: in Δ7q11.23

Question 17

CM of Williams Syndrome

Answer 17

1) Developmental and language delays,
2) cardiovascular abnormalities,
3) high bp,
4) elevated calcium levels,
5) Distinctive facial features.
6) Hypersensitivity to sounds but very sociable