Deciphering Cytogenetics Reports

Rich and Susan Scheid richandsusan at MINDSPRING.COM
Mon Dec 14 00:47:19 EST 1998

Hello.  We just had a baby girl who was shown to have a chromosome
abnormality.  We are having a hard time deciphering the report we were
given and wondered if anyone could help us figure it out or give us some
information as to a site that would help us determine what the report
means.  Her karyotype is 46,XX,i(21)(q10).ish 22q11.2(TUPLE1x2) de novo.
We know that she has an isochromosome #21 in place of a normal chromosome.
I thought that any extra genetic material in chromosome #21 signified Down
Syndrome, but our pediatrician said she didn't think that was the case.
Can anyone help?   

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