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Overview :
De Vries et al developed a simple checklist to determine if a
patient with mental retardation should undergo specialized testing for
subtelomeric defects.
Indications to screen a patient with mental retardation:
(1) family history of mental retardation
(2) intrauterine growth retardation
(3) poor growth (failure to thrive) or overgrowth in the
postnatal period
(4) >= 2 facial dysmorphic features
(5) >= 1 nonfacial dysmorphic features and/or congenital
anomalies
The presence of one or more of these factors may justify the
expense of the specialized testing for a subtelomeric defect. Genomic microarray
analysis may simplify testing and make it more cost-effective.
The above list is based on a more complete checklist (Table
2, page 148, De Vries et al):
Parameters for the checklist:
(1) family history
(2) prenatal onset of growth retardation
(3) postnatal growth abnormalities
(4) facial dysmorphic features (hypertelorism, nasal
anomalies, ear anomalies, other)
(5) nonfacial dysmorphisms and congenital abnormalities
|
Parameter |
Finding |
Points |
|
family history |
none |
0 |
|
|
compatible with Mendelian inheritance |
1 |
|
|
not compatible with Mendelian inheritance |
2 |
|
prenatal onset of growth retardation |
none |
0 |
|
|
present |
2 |
|
postnatal grwowth abnormalities |
none |
0 |
|
|
1 point each for microcephaly, short stature,
macrocephaly, tall stature |
MIN(2, number
present) |
|
facial dysmoprhic features |
none |
0 |
|
|
1 |
0 |
|
|
2 or more |
2 |
|
nonfacial dysmorphic features and/or congenital
abnormalities |
1 point each for: hand anomaly, heart anomaly,
hypospadias, other |
MIN(2, number
present) |
total checklist score =
= SUM(points for all 5 parameters(
Interpretation:
• minimum score: 0
• maximum score: 10
• A score >= 3 was 100% sensitive and 27% specific for a
subtelomeric defect.
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