Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2010-3-3
pubmed:abstractText
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 low-copy repeats (LCRs). We identified a novel 4.0- Mb deletion using oligonucleotide array comparative genomic hybridization (array CGH) in monozygotic twin sisters.
pubmed:language
kor
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
1598-6535
pubmed:author
pubmed:issnType
Print
pubmed:volume
30
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
70-5
pubmed:meshHeading
pubmed-meshheading:20197726-Adaptor Proteins, Signal Transducing, pubmed-meshheading:20197726-Adolescent, pubmed-meshheading:20197726-Attention Deficit Disorder with Hyperactivity, pubmed-meshheading:20197726-Basic Helix-Loop-Helix Transcription Factors, pubmed-meshheading:20197726-Chromosome Deletion, pubmed-meshheading:20197726-Chromosome Disorders, pubmed-meshheading:20197726-Chromosomes, Human, Pair 3, pubmed-meshheading:20197726-Comparative Genomic Hybridization, pubmed-meshheading:20197726-Diseases in Twins, pubmed-meshheading:20197726-Female, pubmed-meshheading:20197726-Homeodomain Proteins, pubmed-meshheading:20197726-Humans, pubmed-meshheading:20197726-In Situ Hybridization, Fluorescence, pubmed-meshheading:20197726-Melanoma-Specific Antigens, pubmed-meshheading:20197726-Membrane Proteins, pubmed-meshheading:20197726-Oligonucleotide Array Sequence Analysis, pubmed-meshheading:20197726-Syndrome, pubmed-meshheading:20197726-Twins, pubmed-meshheading:20197726-p21-Activated Kinases
pubmed:year
2010
pubmed:articleTitle
[Identification of a novel deletion region in 3q29 microdeletion syndrome by oligonucleotide array comparative genomic hybridization].
pubmed:affiliation
Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul 138-736, Korea. ejseo@amc.seoul.kr
pubmed:publicationType
Journal Article, English Abstract, Case Reports