Saturday, February, 11, 2012

Karyotyping

Table of Contents

Alternative Names

Chromosome analysis


Normal Values
  • Females: 44 autosomes and 2 sex chromosomes (XX), written as 46, XX
  • Males: 44 autosomes and 2 sex chromosomes (XY), written as 46, XY

What abnormal results mean

Abnormal results may be due to a genetic syndrome or condition, such as:

  • Down syndrome
  • Klinefelter syndrome
  • Philadelphia chromosome
  • Trisomy 18
  • Turner syndrome

This list is not all-inclusive.

Additional conditions under which the test may be performed:

  • Ambiguous genitalia
  • Chronic myelogenous leukemia (CML) or other leukemias
  • Developmental delays
  • Multiple birth defects


Review Date: 12/01/2010
Reviewed By: Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)