RT Book, Section
A1 South, Sarah T.
A1 Carey, John C.
A2 Rudolph, Colin D.
A2 Rudolph, Abraham M.
A2 Lister, George E.
A2 First, Lewis R.
A2 Gershon, Anne A.
SR Print(0)
ID 6728630
T1 Chapter 173. Human Cytogenetics
T2 Rudolph's Pediatrics, 22e
YR 2011
FD 2011
PB The McGraw-Hill Companies
PP New York, NY
SN 978-0-07-149723-7
LK accesspediatrics.mhmedical.com/content.aspx?aid=6728630
RD 2024/04/16
AB The  field  of  clinical  cytogenetics  and  the  description  of  syndromes  caused  by  gross  chromosomal  abnormalities  laid  the  foundation  for  defining  and  delineating  malformation  syndromes.  Chromosomal  abnormalities  are  detected  in  approximately  1  in  110  newborns  and  are  the  common  most  single  cause  of  mental  retardation  or  developmental  delay.1,2  The  common  pediatric  indications  for  a  chromosome  analysis  include  growth  retardation,  neurologic  impairment,  neuropsychological  dysfunction,  ambiguous  genitalia,  or  multiple  congenital  anomalies.  Clinical  cytogenetics  also,  in  part,  laid  the  foundation  of  the  field  of  dysmorphology.  This  chapter  provides  the  principles  of  human  cytogenetics.