- A de novo Proximal 6q Deletion Confirmed by Array Comparative Genomic Hybridization
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Woo KS, Kim JE, Kim KE, Kim MJ, Yoo JH, Ahn HS, Shaffer LG, Han JY
- KMID: 1096824
- Korean J Lab Med.
- 2010 Feb;30(1):84-88.
- doi: 10.3343/kjlm.2010.30.1.84
Deletions of chromosome 6q, particularly in the proximal region, are relatively rare. Here, we report on a de novo interstitial deletion of (6)(q13q16.2) in a girl with facial dysmorphism, congenital... -
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- Application of Array-Based Comparative Genomic Hybridization to Pediatric Neurologic Diseases
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Byeon JH, Shin E, Kim GH, Lee K, Hong YS, Lee JW, Eun BL
- KMID: 1779883
- Yonsei Med J.
- 2014 Jan;55(1):30-36.
- doi: 10.3349/ymj.2014.55.1.30
PURPOSE: Array comparative genomic hybridization (array-CGH) is a technique used to analyze quantitative increase or decrease of chromosomes by competitive DNA hybridization of patients and controls. This study aimed to... -
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- Identification of a Novel Deletion Region in 3q29 Microdeletion Syndrome by Oligonucleotide Array Comparative Genomic Hybridization
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Seo EJ, Jun KR, Yoo HW, Yoo HK, Lee JO
- KMID: 1096822
- Korean J Lab Med.
- 2010 Feb;30(1):70-75.
- doi: 10.3343/kjlm.2010.30.1.70
BACKGROUND: The 3q29 microdeletion syndrome is a genomic disorder characterized by mental retardation, developmental delay, microcephaly, and slight facial dysmorphism. In most cases, the microdeletion spans a 1.6-Mb region between... -
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- Array-Based Comparative Genomic Hybridization in 190 Korean Patients with Developmental Delay and/or Intellectual Disability: A Single Tertiary Care University Center Study
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Lee CG, Park SJ, Yun JN, Ko JM, Kim HJ, Yim SY, Sohn YB
- KMID: 1798144
- Yonsei Med J.
- 2013 Nov;54(6):1463-1470.
- doi: 10.3349/ymj.2013.54.6.1463
PURPOSE: This study analyzed and evaluated the demographic, clinical, and cytogenetic data [G-banded karyotyping and array-based comparative genomic hybridization (array CGH)] of patients with unexplained developmental delay or intellectual disability... -
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