Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay

Clinical Case Reports

Marwan K. Tayeh¹  Tracy Rocco¹  Todd Ackley¹  Leslie Ernst²  Thomas Glover¹ 

[1] Department of Pediatrics and Communicable Diseases, Division of Pediatric Genetics, Metabolism and Genomic Medicine, University of Michigan, Ann Arbor, Michigan;Department of Pathology, University of Michigan, Ann Arbor, Michigan

关键词: Chromosomal microduplication;    de novo copy number variations;    developmental delay;    multiple congenital anomalies;   

DOI  :  10.1002/ccr3.241

来源: Wiley

【 摘 要 】

Key Clinical Message

A patient with developmental delay and nine, de novo, tandem duplications affecting eight different chromosomes that arose on both maternal and paternal chromosomes indicating a vulnerable zygotic or early postzygotic period of development for these errors, potentially affected by genetic and nongenetic factors.

【 授权许可】

CC BY-NC   
© 2015 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.

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