Genetic Counselling
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Introduction
Genetic counsellors understand medical facts
- adjust to disorder
Trisomy 18
- 1/7500 live births
- larger chromosomes, more severe
- MR, severe cardiac malformations
- clenched fists,
sex chromosomal abnormalities
- difficult to counsel
- usually normal intelligence - MR not assiciated with sex chromosome abnormalities
- physucal appearance usually normal
- moderate risk for developmental problems in specific areas
- impact of environmet is significant
- extensive variability
Robertsonian Translocation
Color Atlas of Genetics - QZ 17 P2867 2007
Genomic Medicine (NEJM) - QZ 50 G 3355 2004
Resources and References
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