TY  - CHAP
M1  - Book, Section
TI  - Methods Involving Chromosomal Analysis and Molecular Genetics
A1  - Laposata, Michael
A1  - McCaffrey, Peter
Y1  - 2022
N1  - 
T2  - Clinical Laboratory Methods: Atlas of Commonly Performed Tests
AB  - A  karyotype  analysis  involves  the  use  of  fresh  viable  tissue  cells  grown  in  culture  and  arrested  in  the  stage  of  cell  division  known  as  metaphase.  In  metaphase,  the  chromosomes  condense  and  become  distinguishable  from  the  other  chromosomes,  as  they  align  in  the  center  of  the  dividing  cell.  The  process  of  karyotyping  involves  the  pairing  and  ordering  of  all  the  chromosomes,  providing  a  genome-wide  view  of  the  individual’s  chromosomes.  The  karyotype  can  reveal  missing  chromosomes,  extra  chromosomes,  or  deletions,  duplications,  and  translocations  of  parts  of  chromosomes.  A  common  abnormality  which  can  be  identified  by  karyotyping  is  Down  syndrome  in  which  there  is  trisomy  of  chromosome  21.  Other  commonly  identified  disorders  using  karyotyping  include  Turner  syndrome,  Klinefelter  syndrome,  and  fragile  X  syndrome.  
SN  - 
PB  - McGraw Hill, LLC
CY  - New York, NY
Y2  - 2024/04/19
UR  - accessmedicine.mhmedical.com/content.aspx?aid=1187001338
ER  -