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is associated with an abnormal phenotype (the central two are normal chromosome 15). d) The inv dup (22) (right) is associated with the cat eye syndrome.
Scott W. Stuart, MD, MS; Casey H. King, BA; G. Shashidar Pai, MD Such observations emphasize the importance of clarifying the origin of a genetic variation by studying the parents for comparison ...
is associated with an abnormal phenotype (the central two are normal chromosome 15). d) The inv dup (22) (right) is associated with the cat eye syndrome.
A genetic evaluation demonstrated Klinefelter syndrome 47, XXY karyotype with concurrent duplication of 3p21.31 by microarray analysis. Maternal genetic analysis demonstrated the same 3p21.31 ...