PMID- 16619270
OWN - NLM
STAT- MEDLINE
DCOM- 20060616
LR  - 20191210
IS  - 1098-1004 (Electronic)
IS  - 1059-7794 (Linking)
VI  - 27
IP  - 5
DP  - 2006 May
TI  - Rapid detection of submicroscopic chromosomal rearrangements in children with 
      multiple congenital anomalies using high density oligonucleotide arrays.
PG  - 467-73
AB  - Chromosomal rearrangements such as microdeletions and interstitial duplications 
      are the underlying cause of many human genetic disorders. These disorders can 
      manifest in the form of multiple congenital anomalies (MCA), which are a 
      significant cause of morbidity and mortality in children. The major limitations 
      of cytogenetic tests currently used for the detection of such chromosomal 
      rearrangements are low resolution and limited coverage of the genome. Thus, it is 
      likely that children with MCA may have submicroscopic chromosomal rearrangements 
      that are not detectable by current techniques. We report the use of a 
      commercially available, oligonucleotide-based microarray for genome-wide analysis 
      of copy number alterations. First, we validated the microarray in patients with 
      known chromosomal rearrangements. Next, we identified previously undetected, de 
      novo chromosomal deletions in patients with MCA who have had a normal 
      high-resolution karyotype and subtelomeric fluorescence in situ hybridization 
      (FISH) analysis. These findings indicate that high-density, oligonucleotide-based 
      microarrays can be successfully used as tools for the detection of chromosomal 
      rearrangement in clinical samples. Their higher resolution and commercial 
      availability make this type of microarray highly desirable for application in the 
      diagnosis of patients with multiple congenital defects.
CI  - (c) Published 2006 Wiley-Liss, Inc.
FAU - Ming, Jeffrey E
AU  - Ming JE
AD  - Division of Human Genetics, Stokes Research Institute, The Children's Hospital of 
      Philadelphia, Philadelphia, Pennsylvania 19104, USA.
FAU - Geiger, Elizabeth
AU  - Geiger E
FAU - James, Alison C
AU  - James AC
FAU - Ciprero, Karen L
AU  - Ciprero KL
FAU - Nimmakayalu, Manjunath
AU  - Nimmakayalu M
FAU - Zhang, Yi
AU  - Zhang Y
FAU - Huang, Andrew
AU  - Huang A
FAU - Vaddi, Madhavi
AU  - Vaddi M
FAU - Rappaport, Eric
AU  - Rappaport E
FAU - Zackai, Elaine H
AU  - Zackai EH
FAU - Shaikh, Tamim H
AU  - Shaikh TH
LA  - eng
SI  - OMIM/105830
SI  - OMIM/115470
SI  - OMIM/176270
SI  - OMIM/182290
SI  - OMIM/188400
SI  - OMIM/194050
GR  - DE015874/DE/NIDCR NIH HHS/United States
GR  - GM64725/GM/NIGMS NIH HHS/United States
GR  - HD26979/HD/NICHD NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
PT  - Validation Study
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
SB  - IM
MH  - Abnormalities, Multiple/*diagnosis/genetics
MH  - Child, Preschool
MH  - *Chromosome Aberrations
MH  - Chromosome Mapping
MH  - Female
MH  - Gene Dosage
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Oligonucleotide Array Sequence Analysis/*methods
MH  - Polymorphism, Single Nucleotide
EDAT- 2006/04/19 09:00
MHDA- 2006/06/17 09:00
CRDT- 2006/04/19 09:00
PHST- 2006/04/19 09:00 [pubmed]
PHST- 2006/06/17 09:00 [medline]
PHST- 2006/04/19 09:00 [entrez]
AID - 10.1002/humu.20322 [doi]
PST - ppublish
SO  - Hum Mutat. 2006 May;27(5):467-73. doi: 10.1002/humu.20322.