Resource Center: genetics, assessment

This page provides extensive information Myotonic Muscular Dystrophy and includes images associated with the disorder.

This article describes the clinical features of APC-associated polyposis conditions, which include familial adenomatous polyposis (FAP), attenuated FAP, Gardner syndrome, and Turcot syndrome.

Bayesian analysis allows one to compare the likelihood of 2 outcomes based on recognized facts. This approach can be used to calculate a variety of probabilities important in medical genetics, including the likelihood of being a carrier following a negative carrier screen. To perform a Bayes analysis in this situation, one must first define the individual's initial carrier risk (prior probability) -- usually based on pedigree calculations or ethnicity data. That initial risk can then be modified based on the negative carrier screen result to determine a revised carrier risk (posterior probability). An example of a common calculation is shown below.

A summary, history and examination checklist, and communication strategies for assessment of a newborn with dysmorphology.

APGAR is a quick test performed at 1 and 5 minutes after birth. This document discusses how the APGAR score can help determine how well the baby tolerated the birthing process.

The American College of Medical Genetics is composed primarily of doctoral (MD, PhD, DO) and master's level (genetic counselors) medical genetics professionals. This is a searchable database of all ACMG members by name or location.

This page provides an overview of Prader-Willi syndrome with links to many scientific resources about the disease.

Presents the recommendations of the Pedigree Standardization Task Force (PSTF) for standard human pedigree nomenclature and symbols. Full article is available.

MedicineNet.com provides a general discussion about genetic counseling, including the psychosocial component of the process.