Developmental Defects Associated with DNA Copy Number Gain of Chromosome 2q33.1: A Case Report and Review of Literature

Akshaya Gupta, Jacob Yo, Gengming Huang, Lynn Soong, Jianli Dong

Research output: Contribution to journalArticle

Abstract

Caspases play a vital role during apoptosis. In addition to apoptosis, caspases play a role in cytokine gene induction and work to inhibit apoptosis. In order for individuals to thrive with useful tissue growth, the rate of cell growth and division must surpass the rate of cell division. It is well established that excessive cell death of embryonic cells is a vital process occurring before structural abnormalities, regardless of their nature. Here we describe a 13-month-old male patient with a 4.7Mb interstitial duplication of chromosome 2q33.1. This duplication was identified by chromosomal microarray (CMA) which is the first-tier clinical diagnostic test to identify copy number variants (CNVs) for patients with unexplained developmental delay or intellectual disability. This patient presents with global developmental delay, especially in speech, language, hypotonia, and bilateral simian creases. The duplicated region contains several disease-causing genes. We believe that the phenotype in this patient's case was likely related to the gain of caspase 8 and 10 genes.

Original languageEnglish (US)
Pages (from-to)160-164
Number of pages5
JournalLab Medicine
Volume49
Issue number2
DOIs
StatePublished - Mar 21 2018

Keywords

  • copy number variation
  • gain of 2q33.1
  • gains of caspase 8 and 10 genes
  • whole genome chromosomal microarray

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Biochemistry, medical

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