Chapter 14: GENETICS & INHERITED DISEASES

NOTE: THE GENETICS SECTION IS EXTREMELY IMPORTANT! KNOWING IT COLD IS ESSENTIAL IF YOU WANT TO PASS THE PEDIATRIC EXAM. It contains a tremendous amount of information. Rote memo­ri­zation is difficult! Please focus on the many images, mnemonics, and pearls provided to help you quickly master the topics. If some of the links provided for images lead you to pages with words on them, try to strictly focus on the images and ignore the words! Also, some disorders may only be presented by name and mode of inheritance since they fit better elsewhere in the study guide. An effort has been made to at least provide a quick summary for virtually every disorder. Consider using the search function in the PBR members’ website if you need a full recap of certain disorders.

AUTOSOMAL DOMINANT DISORDERS

AUTOSOMAL DOMINANT DISORDERS

An autosomal dominant disorder may be passed on from either parent to male OR female children.

AUTOSOMAL DOMINANT MNEMONIC

• Waardenburg Syndrome
• Apert Syndrome
• Marfan Syndrome
• Noonan Syndrome
• Hypertrophic cardiomyopathy
• Romano–Ward syndrome (hereditary long QT)
• Nail-patella Syndrome
• Tuberous Sclerosis
• Neurofibromatosis I
• Retinoblastoma
• Achondroplasia
• Peutz-Jegher syndrome
• Gardner Syndrome (and other FAPs caused by mutation of APC gene)
• Huntington’s disease
• Hyper-IgE syndrome