RT Book, Section
A1 Eble, Tanya N.
A1 Nagamani, Sandesh C. S.
A2 Kline, Mark W.
SR Print(0)
ID 1182930509
T1 Principles for the Practice of Clinical Genetics
T2 Rudolph's Pediatrics, 23e
YR 2018
FD 2018
PB McGraw-Hill Education
PP New York, NY
SN 9781259588594
LK accesspediatrics.mhmedical.com/content.aspx?aid=1182930509
RD 2024/04/19
AB Few  specialties  of  medicine,  if  any,  can  match  the  unprecedented  advances  that  have  occurred  in  the  field  of  human  and  medical  genetics  during  the  last  2  decades.  Since  completion  of  the  sequencing  of  the  human  genome  in  2003,  our  understanding  of  the  genetic  bases  of  rare  single-gene  disorders  as  well  as  common  multifactorial  disorders  has  increased  tremendously.  Molecular  cytogenetic  and  sequencing  techniques  are  not  only  being  widely  used  for  diagnosis  of  many  disorders  but  also  to  help  guide  management  and  therapy,  particularly  cancer  therapy.  This  chapter  outlines  the  key  principles  of  genetics  that  are  relevant  for  the  practice  of  medicine.