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Journal Information

Online ISSN
1305-3124

Established
1993

Editors-in-Chief
​Cihat Şen, ​Nicola Volpe

Editors
Cecilia Villalain, Daniel Rolnik, M. Mar Gil

Managing Editors
Murat Yayla

Statistics Editor
Resul Arısoy

WHY MENDEL WAS WRONG

Mark I. Evans

Article info

WHY MENDEL WAS WRONG. Perinatal Journal 2005;13(Suppl):179-179

Author(s) Information

Mark I. Evans

  1. Professor of Obstetrics & Gynecology Director, Institute for Genetics MT. Sinai School of Medicine- New York US
Publication History
Conflicts of Interest

No conflicts declared.

Keywords

Historically, genetic disorders have been categorized as having inheritance through Mendelian or polygenic/multifactorial patterns or chromosomal disorders. Increasingly over the past several years, a number of genetic conditions have been seen which do not follow this dogmatic patterns and . Disorders such as Huntington's Disease, Fragile X, and Myotonic Dystrophy follow tri-nucleotide expansion patterns. Angleman's and Prader-Willi Syndrome classic examples of imprinting effects, and several disorders follow mitochondrial maternal inheritance. Likewise, Uniparental Disomy defines a situation in which both copies of a gene came from one parent and none from the other. Appreciation of these mechanisms is important in the counseling of patients with a number of increasingly recognized conditions.
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