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 language | English (US) |
|---|---|
| Pages (from-to) | 160-164 |
| Number of pages | 5 |
| Journal | Lab Medicine |
| Volume | 49 |
| Issue number | 2 |
| DOIs | |
| State | Published - Mar 21 2018 |
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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
Cite this
Developmental Defects Associated with DNA Copy Number Gain of Chromosome 2q33.1 : A Case Report and Review of Literature. / Gupta, Akshaya; Yo, Jacob; Huang, Gengming; Soong, Lynn; Dong, Jianli.
In: Lab Medicine, Vol. 49, No. 2, 21.03.2018, p. 160-164.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Developmental Defects Associated with DNA Copy Number Gain of Chromosome 2q33.1
T2 - A Case Report and Review of Literature
AU - Gupta, Akshaya
AU - Yo, Jacob
AU - Huang, Gengming
AU - Soong, Lynn
AU - Dong, Jianli
PY - 2018/3/21
Y1 - 2018/3/21
N2 - 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.
AB - 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.
KW - copy number variation
KW - gain of 2q33.1
KW - gains of caspase 8 and 10 genes
KW - whole genome chromosomal microarray
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U2 - 10.1093/labmed/lmx086
DO - 10.1093/labmed/lmx086
M3 - Article
VL - 49
SP - 160
EP - 164
JO - Laboratory Medicine
JF - Laboratory Medicine
SN - 0007-5027
IS - 2
ER -