Mrs Jones' First Consultation

Question 1

define malformation

Answer 1

defect of organ/part of an organ/larger region that results from intrinsically abnormal developmental process

Question 2

define disruption

Answer 2

morphological defect of organ/part of an organ/larger region resulting from extrinsic breakdown of, or interference with, an originally normal developmental process

Question 3

define deformation

Answer 3

abnormal form, shape or position of the body caused by mechanical forces

Question 4

define dysplasia

Answer 4

abnormal organisation of cells in tissue(s) and its morphological result(s)

Question 5

sequence

Answer 5

pattern of multiple abnormalities derived from a single known or presumed prior anomaly or mechanical factor

Question 6

syndrome

Answer 6

multiple abnormalities thought to be pathologically related and not representing a sequence

Question 7

association

Answer 7

non-random occurrence in 2+ individuals of multiple congenital abnormalities not known to be a polytopic defect sequence or syndrome

Question 8

name 3 chromosomal abnormalities, with examples

Answer 8

1) structural - deletion, translocations, ring, inversion
2) numerical a.k.a aneuploidy - loss/gain
3) mosaicism - different cell lineages

Question 9

define monosomy, trisomy and tetrasomy

Answer 9

loss of 1, gain of 1 and gain of 2

Question 10

give examples of biological effects seen in Down syndrome

Answer 10

newborn - hypotonia, lethargy, XS nuchal skin
craniofacial - macroglossia, small ears, epicanthic folds, brush field spots,
limbs - single palmar crease, sandal gap
cardiac - spatial defects, AV canal

Question 11

3 causes of DS

Answer 11

trisomy, translocation, mosaicism

Question 12

how does trisomy happen?

Answer 12

non-disjunction in meiosis 1 or 2

Question 13

why does trisomy cause disease/whats affected?

Answer 13

transcription factors/regulatory elements
CS receptors/transporters
sub-units of multi-meric proteins

Question 14

what is dosage compensation?

Answer 14

it ensures equivalent gene expression in both sexes (XX not = XY)

Question 15

name and describe the mechanism for dosage compensation

Answer 15

1) lyonization - inactivation of X chromosome in females

Question 16

anagram to remember Di George features

Answer 16

Cardiac anomalies 
Abnormal facial features
Thymic hypoplasia
Cleft palate
Hypocalcaemia
CATCH 22
(Chr affected = 22)