Array-CGH increased the diagnostic rate of developmental delay or intellectual disability in Taiwan
نویسندگان
چکیده
منابع مشابه
Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?
Array comparative genomic hybridization (array CGH) is now widely adopted as a first-tier clinical diagnostic test in individuals with unexplained developmental delay/intellectual disability (DD/ID) and congenital anomalies. Our study aimed at enlarging the phenotypic spectrum associated with clinically relevant copy number variants (CNVs) as well as delineating clinical criteria, which may hel...
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Current Opinion in Neurology 2008, 21:117–122 Purpose of review The review addresses the recent discovery of large-scale copy number variations in the human genome and advances in microarray technology which together have changed the clinical genetic diagnostic approach for children with global developmental delay Recent findings Several publications in the last three years evaluate the diagnos...
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in the present study, the effect of e-64 at different concentrations (0.5, 1, 5 and 10 µm) added to (1) the ivm medium on oocyte nuclear maturation and developmental competence of ovine oocytes, and (2) to the ivc medium on embryonic development of ovine embryos were investigated.
The Prevalence of Chromosomal Deletions Relating to Developmental Delay and/or Intellectual Disability in Human Euploid Blastocysts
Chromosomal anomalies in human embryos produced by in vitro fertilization are very common, which include numerical (aneuploidy) and structural (deletion, duplication or others) anomalies. Our previous study indicated that chromosomal deletion(s) is the most common structural anomaly accounting for approximately 8% of euploid blastocysts. It is still unknown if these deletions in human euploid b...
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Objective. This paper highlights the main lines of etiological investigation of global developmental delay (GDD), mental retardation (MR) or intellectual disability (ID) and their specifi c order. GDD and MR/ID are chronic entities with onset during the developmental period, affecting personal, social, academic, occupational functions. Elucidating the etiology is important for establishing the ...
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ژورنال
عنوان ژورنال: Pediatrics & Neonatology
سال: 2019
ISSN: 1875-9572
DOI: 10.1016/j.pedneo.2018.11.006