Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability

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Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability

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scientific article published on 01 September 2018

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wetenschappelijk artikel

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наукова стаття, опублікована у вересні 2018

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Chromosomal Microarray With Cl ...... lay or Intellectual Disability

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Chromosomal Microarray With Cl ...... lay or Intellectual Disability

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Chromosomal Microarray With Cl ...... lay or Intellectual Disability

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Chromosomal Microarray With Cl ...... lay or Intellectual Disability

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Chromosomal Microarray With Cl ...... lay or Intellectual Disability

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Chromosomal Microarray With Cl ...... lay or Intellectual Disability

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Chromosomal Microarray With Cl ...... lay or Intellectual Disability

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Hee Hwang

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Jin Sook Lee

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Jin Sun Choi

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Jong Hee Chae

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Jong Kwan Jun

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Ki Joong Kim

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Mi Jung Woo

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Soo Yeon Kim

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Young Min Choi

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Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort

Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases.

Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion

The clinical impact of chromosomal microarray on paediatric care in Hong Kong.

Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH

A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay.

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies.

Routine chromosomal microarray analysis is necessary in Korean patients with unexplained developmental delay/mental retardation/autism spectrum disorder.

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

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473-480

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scholarly article

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10.3343/ALM.2018.38.5.473

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English

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Byung Chan Lim

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2018-09-01T00:00:00Z

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29797819

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diagnosis

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5973923

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