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instability), but the distinct craniofacial appearance seems to occur in
all children with DS. Though present in all individuals with DS, the
characteristic facial features are highly variable. Since these features
most likely arise due to differences in the developmental regime of
euploid (non-trisomic) and trisomic individuals, an animal model pro-
vides certain advantages to the study of the developmental basis of
these facial features since it can be manipulated at any time during
development.
The Ts65Dn mouse is a model for DS. To establish the value of the
Ts65Dn mouse model in the study of DS, initial energies were directed
towards definition of the various phenotypes of interest that are
expressed in the animal model. We sought to define the craniofacial
phenotype. Using the Reflex microscope, three-dimensional landmark
coordinate data were collected from the mandibles of seven adult
Ts65Dn mice and 13 adult euploid littermates. Landmarks identify loci
on the exterior surface of the left hemi-mandible (see Figure 3.2 ) . These
data were used to calculate a mean form, a mean form matrix, and a
variance-covariance matrix for both the euploid and aneuploid samples
using the methods described above and presented in detail in Part 2 of
this chapter. The estimated parameters are given in Table 3.1a- f .
Table 3.1a. Mean form of the aneuploid Ts65Dn mandible ( mm ) (Coordinate
values correspond to the mean form matrix)
Landmark (number)
X
Y
Z
coronoid process (1)
2.312
2.582
0.408
mandibular angle (2)
5.185
-2.875 -0.044
anterior aspect of condyle (3)
4.702
1.517 -0.070
posterior aspect of condyle (4)
6.231
0.631 -0.460
high point on mandibular body (5)
0.220
-1.872
0.308
posterior aspect at base of alveolar thickening (6) -1.902
-2.221 -0.113
posterior aspect of incisor at alveolus (7)
-5.192
-0.795 -0.126
anterior aspect of incisor at alveolus (8)
-5.552
1.438 -0.496
body of alveolar ridge (9)
-2.971
-0.269
0.325
anterior aspect of M1 on alveolus (10)
-2.361
0.965
0.039
intersection of coronoid
-0.672
0.901
0.229
process and alveolar rim (11)
 
 
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