Chapter 4. Directed Medical-Genetic Family History Queries: Separating the Trees from the Forest

  1. Robin L. Bennett

Published Online: 19 MAR 2002

DOI: 10.1002/0471223913.ch4

Book Title

The Practical Guide to the Genetic Family History

The Practical Guide to the Genetic Family History

Additional Information

How to Cite

Bennett, R. L. (2002) Directed Medical-Genetic Family History Queries: Separating the Trees from the Forest, in The Practical Guide to the Genetic Family History, John Wiley & Sons, Inc., New York, USA. doi: 10.1002/0471223913.ch4

Publication History

  1. Published Online: 19 MAR 2002
  2. Published Print: 7 APR 1999

ISBN Information

Print ISBN: 9780471251545

Online ISBN: 9780471223917

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Keywords:

  • red flags;
  • inherited conditions

Summary

This chapter begins with a handy-reference table of the “red flags” that suggest a genetic disorder in a family history. Detailed tables provide family history queries and reference information for identifying associations of medical conditions that may be inherited. Clues to recognizing inherited patterns and issues for a broad range of conditions are reviewed, including:

  • Physical birth anomalies and variants

  • Cleft lip with and without cleft palate

  • Congenital heart defects

  • Neural tube defects

  • Fetal anomalies detected on routine ultrasound examination

  • Deafness/hearing loss

  • Vision impairment

  • Mental retardation

  • Inherited metabolic disorders

  • Autism

  • Neurological and neuromuscular disorders

  • Seizures

  • Dementia

  • Mental illness

  • Cardiac disease

  • Chronic respiratory disease

  • Renal disorders

  • Skeletal anomalies

  • Short stature

  • Diabetes

  • Infertility

  • Multiple miscarriages

  • Sudden infant death syndrome

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