PMID- 22786613
OWN - NLM
STAT- MEDLINE
DCOM- 20121105
LR  - 20161021
IS  - 1934-8258 (Electronic)
IS  - 1934-8258 (Linking)
VI  - Chapter 8
DP  - 2012 Jul
TI  - Oligonucleotide microarrays for clinical diagnosis of copy number variation and 
      zygosity status.
PG  - Unit8.12
LID - 10.1002/0471142905.hg0812s74 [doi]
AB  - Detection of submicroscopic genomic copy number variation is now considered the 
      first-tier clinical test-in place of standard G-banded karyotyping-in the 
      evaluation of children with unexplained developmental delay, intellectual 
      disability, autism spectrum disorders, or congenital anomalies. Fluorescence in 
      situ hybridization (FISH) was the first molecular method for detection of 
      submicroscopic genomic copy number variants (CNVs), but microarray-based 
      comparative genomic hybridization (array CGH) has a much higher diagnostic yield 
      for these patients when compared to traditional cytogenetic methods such as 
      karyotype and FISH. This unit focuses on oligonucleotide arrays, including 
      updated information about detection of long contiguous stretches of homozygosity 
      (LCSH) through inclusion of single-nucleotide polymorphism (SNP) probes. Most 
      clinical laboratories now offer arrays with some level of probe coverage 
      throughout the genome, and many are offering detection of LCSH. Updated 
      guidelines for array design and result interpretation are reviewed.
CI  - (c) 2012 by John Wiley & Sons, Inc.
FAU - Miller, David T
AU  - Miller DT
AD  - Department of Laboratory Medicine, Division of Genetics, Children's Hospital 
      Boston, and Harvard Medical School, Boston, Massachusetts, USA.
FAU - Shen, Yiping
AU  - Shen Y
FAU - Wu, Bai-Lin
AU  - Wu BL
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Curr Protoc Hum Genet
JT  - Current protocols in human genetics
JID - 101287858
SB  - IM
MH  - Chromosome Banding
MH  - Comparative Genomic Hybridization
MH  - *DNA Copy Number Variations
MH  - Genetic Diseases, Inborn/*diagnosis
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Oligonucleotide Array Sequence Analysis/*methods
MH  - Polymorphism, Single Nucleotide
EDAT- 2012/07/13 06:00
MHDA- 2012/11/06 06:00
CRDT- 2012/07/13 06:00
PHST- 2012/07/13 06:00 [entrez]
PHST- 2012/07/13 06:00 [pubmed]
PHST- 2012/11/06 06:00 [medline]
AID - 10.1002/0471142905.hg0812s74 [doi]
PST - ppublish
SO  - Curr Protoc Hum Genet. 2012 Jul;Chapter 8:Unit8.12. doi: 
      10.1002/0471142905.hg0812s74.