Patient Resources

What's new in genetics?

Over the past several years, genetic testing has undergone many technological advances.   One of the main changes in genetic analysis is the emergence of microarray technology.    Microarray is also able to detect small deletions and duplications in DNA that were not previously detectable by looking at a person's chromosomes under a microscope (what is known as a karyotype, or chromosomal analysis).  Therefore, microarray has become the preferred test over standard karyotype analysis, particularly for individuals with developmental delay/intellectual disability, autism spectrum disorders, and multiple congenital anomalies.  If your child was seen by our division prior to 2005 and had routine karyotype analysis that did not reveal a diagnosis, we encourage you to re-contact our office to discuss the utility of microarray testing.  

  • Online Mendelian Inheritance in Man includes information on all known Mendelian conditions and over 12,000 genes
  • Gene Tests - includes expert-authored and peer-reviewed summaries on over 540 of the more common genetic disorders
  • Genetic and Rare Conditions - contains information on national and international support groups for over 200 chromosomal/genetic conditions
  • Woodbine House - special needs publishing company with many books on Down syndrome, autism, deafness, intellectual disabilities, etc.
  • Genetic Alliance - network of over 1,000 advocacy organizations, universities, public agencies, private companies committed to transforming health through genetics
  • Family Village - a directory of thousands of online resources for individuals/families with disabilities
  • March of Dimes - provides information on pregnancy, birth defects, and genetic disorders
  • Rare Chromosome Disorder Support Group - an online source of information and support to families and individuals with rare chromosome disorders.
  • Chromosome Disorder Outreach - an online source of information and support to families and individuals with rare chromosome disorders.