PMID- 16857771
OWN - NLM
STAT- MEDLINE
DCOM- 20071102
LR  - 20191210
IS  - 0031-3998 (Print)
IS  - 0031-3998 (Linking)
VI  - 60
IP  - 3
DP  - 2006 Sep
TI  - Array-based comparative genome hybridization in clinical genetics.
PG  - 353-8
AB  - Abnormalities in DNA copy number are frequently found in patients with multiple 
      anomaly syndromes and mental retardation. Array-based comparative genomic 
      hybridization (array-CGH) is a high-resolution, whole-genome technology that 
      improves detection of submicroscopic aberrations underlying these syndromes. 
      Eight patients with mental disability, multiple congenital anomalies, and 
      dysmorphic features were screened for submicroscopic chromosomal imbalances using 
      the GenoSensor Array 300 Chip. Subtelomeric aberrations previously detected by 
      fluorescence in situ hybridization (FISH) analysis were confirmed in two 
      patients, and accurate diagnosis was provided in two previously undiagnosed 
      complex cases. Microdeletions at 15q11.2-q13 in a newborn with hypotonia, 
      cryptorchidism, and hypopigmentation were detected with few discrepancies between 
      the array results and FISH analysis. Contiguous microdeletion of GSCL, HIRA and 
      TBX1 genes at 22q11.2 was identified in a previously undiagnosed boy with an 
      unusual presentation of the VCF/DiGeorge spectrum. In a newborn with aniridia, a 
      borderline false-negative WT1 deletion was observed, most probably because of 
      differences between the size of the genomic deletion and the microarray probe. A 
      false-positive rate of 0.2% was calculated for clone-by-clone analysis, whereas 
      the per patient false-positive rate was 20%. Array-CGH is a powerful tool for the 
      rapid and accurate detection of genetic disorders associated with copy number 
      abnormalities and can significantly improve clinical genetic diagnosis and care.
FAU - Bar-Shira, Anat
AU  - Bar-Shira A
AD  - Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv 64239, Israel.
FAU - Rosner, Guy
AU  - Rosner G
FAU - Rosner, Serena
AU  - Rosner S
FAU - Goldstein, Myriam
AU  - Goldstein M
FAU - Orr-Urtreger, Avi
AU  - Orr-Urtreger A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Validation Study
DEP - 20060720
PL  - United States
TA  - Pediatr Res
JT  - Pediatric research
JID - 0100714
SB  - IM
CIN - Pediatr Res. 2006 Sep;60(3):243-4. PMID: 16923947
MH  - Abnormalities, Multiple/diagnosis/genetics
MH  - Adolescent
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Aberrations
MH  - Diagnosis, Differential
MH  - Female
MH  - Gene Dosage
MH  - *Genome, Human
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Infant, Newborn
MH  - Intellectual Disability/diagnosis/genetics
MH  - Male
MH  - *Oligonucleotide Array Sequence Analysis
EDAT- 2006/07/22 09:00
MHDA- 2007/11/06 09:00
CRDT- 2006/07/22 09:00
PHST- 2006/07/22 09:00 [pubmed]
PHST- 2007/11/06 09:00 [medline]
PHST- 2006/07/22 09:00 [entrez]
AID - 01.pdr.0000233012.00447.68 [pii]
AID - 10.1203/01.pdr.0000233012.00447.68 [doi]
PST - ppublish
SO  - Pediatr Res. 2006 Sep;60(3):353-8. doi: 10.1203/01.pdr.0000233012.00447.68. Epub 
      2006 Jul 20.