Stuff for Midterm

Question 1

Tri-nucleotide repeat for fragile X syndrome `

Answer 1

CGG

Question 2

Tri-nucleotide repeat for Huntington’s disease

Answer 2

CAG

Question 3

Tri-nucleotide repeat for Friedreich ataxia

Answer 3

GAA

Question 4

Tri-nucleotide repeat for Myotonic dystrophy

Answer 4

CTG

Question 5

Examples of minor anomalies

Answer 5

Chin dimple, Clinodactyly, palmar crease, synophrys

Question 6

Examples of a deformation

Answer 6

Club foot: Talipes equinovarus
Plagiocephaly: assymetric head shape

Question 7

How does a deformation occur

Answer 7

An external factor produces abnormal shape due to pressure and/or restriction of growth and movement

Question 8

How does a disruption occur

Answer 8

Developmental process is normal, but interrupted

Morphologic defect resulting from the extrinsic breakdown or interference with a normal developmental process

Question 9

Examples of a disruption

Answer 9

Phocomelia from thalidomide exposure

Question 10

How does a malformation occur

Answer 10

birth anomaly in which the developmental was intrinsically abnormal

Question 11

Examples of a malformation

Answer 11

holoprosencephaly, congenital heart disease, neural tube defect

Question 12

Example of a sequence

Answer 12

Pierre Robin Sequence
small mandible, tongue displaced posteriorly, tongue blocks the fusion of the palate in the midline; in severe cases: tongue impairs formation of larynx

Question 13

What is an association

Answer 13

A collection of anomalies that are recognized to be co- occurring at higher than expected rates