Slide 1 Fundus of a 9 year old CHM male (left): the pigment layer has a “salt and pepper” appearance (represented by black arrows) and is more transparent allowing one…

Slide 1 The fragile X syndrome : What about the deficit in the pragmatic component of language ? Annick Comblain, Dr Speech and Language Pathology Mouna Elbouz, MS Speech…

Slide 1 The Genetics of Ichthyosis Sherri J. Bale, PhD, FACMG Clinical Director, GeneDx FIRST Family Conference Orlando, FL - June 27, 2010 Slide 2 What we’re going to…

Slide 1 Single gene disorder pedigree proband: affected individual that initially comes to light kindred: relatives outside of the immediate nuclear family siblings: brothers…

Slide 1 Pedigree Workshop Slide 2 Congenital cataracts Slide 3 A pedigree traces the patterns of inheritance of genetic traits from generation to generation within a family.…

Slide 1 Chapter 6 – Pedigree Analysis and Applications Slide 2 Pedigree Visual representation of family tree with history of studied trait –Proband – person originally…

Inheritance Patterns through Pedigrees MMHS Science Mr. Chitraroff Main Inheritance Types Autosomal Recessive Autosomal Dominant X-Linked (Sex-Linked) Recessive X-Linked…

Chapter 4.1 How does sexual reproduction and change in the genetic information result in variation within populations? How can we measure variations in a population? Describe…

A Diagnostic Testing Service for Hypophosphatemic Rickets M. Sloman, K. Thomas, C. Tysoe, S. Ellard Department of Molecular Genetics Case Study - CB family III:1 III:2 Diagnosis…

Patterns of Inheritance Pedigrees A pedigree is a genetic family tree that shows how prevalent a trait is in a family unit from generation to generation. They are often used…