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 2024/10/08 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.