LIFESCI 2G03 Lecture Notes - Lecture 20: Congenital Heart Defect, Intellectual Disability, Chromosome
3 Apr 2018
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Document Summary
A syndrome of symptoms first reported in 1975 in a six-week old infant. Significant morbidity and mortality congenital heart defects mental retardation, seizures characteristic facial appearance l cardiac defects are found in 93% of affected individuals average age at death of ~6 years. Also known as recombinant 8 or rec8 syndrome. This syndrome is associated with a duplication and a deletion of chromosome 8. Affected individuals have one recombinant chromosome notated as: Rec(8)dup(8q)(p23. 1q22. 1) (deleted for 8p23. 1 pter and duplicated for 8q22 qter) Banding pattern allows for identification of regions that are duplcocated and deleted. The duplication is much longer than the deletion. Duplications too many genes can have symptoms-like a dosage effect like extra copy of chromosome 21-depends on size of duplication if 100 genes are affected-may lead to too much. Everything is there, its just in a different orientation.
