Genetic and Chromosomal Abnormalities

Question 1

discuss trisomy 21

Answer 1

mongolism or down syndrome

flat occiput, oblique palpebral fissure, epicanthic folds and speckled iris

CHD - septal defects

dec acetabular and iliac

small penis

cryptorchidism

simean crease

short bound hands

hypoplasia of middle phalanx of 5th finger and gap bet 1st and 2nd toes

ligament laxity - AA subluxation

variable IQ

Question 2

trisomy 18

Answer 2

edward’s syndrome

F: 7 mo
M: 2 mo

until 1 yo

MR, hypertonia and BW

prominent occiput, micrognathia and low malformed ears

camptodactyly and talipes equinovarus

Question 3

trisomy 13

Answer 3

patau’s

F > M

until 3 yo

MR, apneic episodes

progressive microcephaly

microphthalmia

polydactyly

hypoplastic nails

simean crease

Question 4

trisomy 15

Answer 4

cri-du-chat or cat cry syndrome

until 2 yo

high pitched cry and microcephaly

Question 5

trisomy 4

Answer 5

wolf hirschhorn syndrome

until 2 yo

more severe psychomotor and MR

CHD and kidney problems

Question 6

prader willi syndrome

Answer 6

turner, XO, bonnevie ulrich syndrome

hyperphagia

hypotonia

hypometria

gonadal dysgenesis

Question 7

charac of prader willi syndrome

Answer 7

obtunded growth

F>M

under developed breast

webbed neck

cubitus valgus

early osteoporosis

pattelar disloc

radial head disloc

Question 8

klinefelter syndrome

Answer 8

XXY

M>F

s/sx present @ puberty stage

N intelligence

passive personality

dec libido

underdeveloped gonads

Question 9

XXX

Answer 9

N gonadal function