genetics

Question 1

NF-1- AD sporadic mutation.

Answer 1

Cafe au lait patches, axillary freckling, optic glioma, lisch nodules

Question 2

downs (t21)

Answer 2

hypotonia, developmental delay, low IQ, congenital cardia, hypothyroidism , coeliac, leukaemia, A-A instability, vision and hearing

Question 3

Turners (45x)

Answer 3

short, aortic and renal anomalies, gonadal dysgenesis, infertility, normal IQ, web neck, shield chest

Question 4

Klinefelter 47xxy

Answer 4

eunochoid habitus, gynaecomastia, scant hair, small testes, tall, behavioural phenotype- impulse control, reduced IQ

Question 5

Marfan FBN1

Answer 5

chest deformity, lens dislocation, aortic root dilation

Question 6

Fragile X (CGG triplet repeat on X-Chromosome)

Answer 6

low IQ, behavioural issues, miler in girls

Question 7

Cornelia de Lange

Answer 7

a distinctive facial appearance
prenatal and postnatal growth deficiency
feeding difficulties
psychomotor delay
behavioural problems, and
associated malformations that mainly involve the upper extremities.

Question 8

Williams’ syndrome long arm of chr 7

Answer 8

a distinctive, “elfin” facial appearance
a low nasal bridge, and
an unusually cheerful demeanour and ease with strangers.

Question 9

DiGeorge 22q11. 2 deletion syndrome

Answer 9

Cardiac
Abnormal face
Thymic hypoplasia
Cleft Palate
Hypocalcemia

Question 10

Tay-sachs disease- GM2 buildup

Answer 10

Infants with Tay-Sachs disease appear to develop normally for the first few months of life. Then, as nerve cells become distended with fatty material, a relentless deterioration of mental and physical abilities occurs. “cherry red spots” in eyes

Question 11

Smith-Magenis deletion on chromosome 17

Answer 11

self harm, self hugging

Question 12

Cri Du Chat deletion of the short arm of chromosome 5

Answer 12

hypotonia, short stature, high arched palate, wide bridged nose “cat’s cry”

Question 13

Prader Willi micro-deletion of part of chromosome 15 (85% paternal)

Answer 13

hypotonia, hyperplasia, hypogonadism, intellectual impairment, and challenging behaviours.

Question 14

Angelman micro-deletion of chromosome 15 (maternal)

Answer 14

a happy disposition and laugh frequently for almost any reason and their movements are jerky like those of a marionette, or puppet.

Question 15

Edwards (trisomy 18)

Answer 15

Rocker bottom feet, tightly closed fist at birth with the index finger overlapping the third digit, micrographic and renal abnormalities.