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Dergi Kimliği

Online ISSN
1305-3132

Yayın Dönemi
1993 - 2021

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

Editors
Daniel Rolnik, Mar Gil, Murat Yayla, Oluş Api

Why mendel was wrong

Mark I. Evans

Künye

Why mendel was wrong. Perinatoloji Dergisi 2005;13(2):s179-179

Yazar Bilgileri

Mark I. Evans

  1. Professor of Obstetrics & Gynecology Director, Institute for Genetics MT. Sinai School of Medicine- New York US
Yayın Geçmişi
Çıkar Çakışması

Çıkar çakışması bulunmadığı belirtilmiştir.

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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