RUO - RB1 / RCAN1, SE X/SE Y/ SE 18

Trisomy 21 is one of the most common chromosomal abnormalities in live born children and causes Down syndrome. Trisomy 13, also called Patau syndrome, is a chromosomal condition that is associated with severe mental retardation and certain physical abnormalities.Trisomy 18 causing Edwards syndrome is the second most common autosomal trisomy after trisomy 21. The disorder/condition is characterized by severe symptoms. Turner syndrome occurs when females inherit only one X chromosome; their genotype is X0. Metafemales or triple-X females, inherit three X of more chromosomes. Klinefelter syndrome males inherit one or more extra X chromosomes; XYY syndrome males inherit an extra Y chromosome.

References:

Uchida et al, 2010, Cancer Genet Cytogenet, 203; 324-327.

Sen et al, 2002, J of Nat Canc Inst, 94; 1320-1329.

Lassmann et al, 2007, Clin Cancer Res, 13; 4083-4091.

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KI-40005
RB1 (13q14)/RCAN1 (21q22), SE X/Y/18 10
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KI-40006
RB1 (13q14)/RCAN1 (21q22), SE X/Y/18 30
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