PMID- 14526392
OWN - NLM
STAT- MEDLINE
DCOM- 20040819
LR  - 20240411
IS  - 0002-9297 (Print)
IS  - 1537-6605 (Electronic)
IS  - 0002-9297 (Linking)
VI  - 73
IP  - 5
DP  - 2003 Nov
TI  - Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and 
      molecular analysis of thirteen patients.
PG  - 1027-40
AB  - Chromosome 22, particularly band 22q11.2, is predisposed to rearrangements due to 
      misalignments of low-copy repeats (LCRs). DiGeorge/velocardiofacial syndrome 
      (DG/VCFS) is a common disorder resulting from microdeletion within the same band. 
      Although both deletion and duplication are expected to occur in equal proportions 
      as reciprocal events caused by LCR-mediated rearrangements, very few 
      microduplications have been identified. We have identified 13 cases of 
      microduplication 22q11.2, primarily by interphase fluorescence in situ 
      hybridization (FISH). The size of the duplications, determined by FISH probes 
      from bacterial artificial chromosomes and P(1) artificial chromosomes, range from 
      3-4 Mb to 6 Mb, and the exchange points seem to involve an LCR. Molecular 
      analysis based on 15 short tandem repeats confirmed the size of the duplications 
      and indicated that at least 1 of 15 loci has three alleles present. The patients' 
      phenotypes ranged from mild to severe, sharing a tendency for velopharyngeal 
      insufficiency with DG/VCFS but having other distinctive characteristics, as well. 
      Although the present series of patients was ascertained because of some 
      overlapping features with DG/VCF syndromes, the microduplication of 22q11.2 
      appears to be a new syndrome.
FAU - Ensenauer, Regina E
AU  - Ensenauer RE
AD  - Department of Medical Genetics, Mayo Clinic, Rochester, MN 55905, USA.
FAU - Adeyinka, Adewale
AU  - Adeyinka A
FAU - Flynn, Heather C
AU  - Flynn HC
FAU - Michels, Virginia V
AU  - Michels VV
FAU - Lindor, Noralane M
AU  - Lindor NM
FAU - Dawson, D Brian
AU  - Dawson DB
FAU - Thorland, Erik C
AU  - Thorland EC
FAU - Lorentz, Cindy Pham
AU  - Lorentz CP
FAU - Goldstein, Jennifer L
AU  - Goldstein JL
FAU - McDonald, Marie T
AU  - McDonald MT
FAU - Smith, Wendy E
AU  - Smith WE
FAU - Simon-Fayard, Elba
AU  - Simon-Fayard E
FAU - Alexander, Alan A
AU  - Alexander AA
FAU - Kulharya, Anita S
AU  - Kulharya AS
FAU - Ketterling, Rhett P
AU  - Ketterling RP
FAU - Clark, Robin D
AU  - Clark RD
FAU - Jalal, Syed M
AU  - Jalal SM
LA  - eng
PT  - Journal Article
DEP - 20031002
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
SB  - IM
MH  - Abnormalities, Multiple/*genetics/pathology/*physiopathology
MH  - Adolescent
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Banding
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 22/*genetics
MH  - *Cytogenetic Analysis
MH  - Female
MH  - *Gene Duplication
MH  - Genotype
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Infant, Newborn
MH  - Interphase
MH  - Male
MH  - Microsatellite Repeats/genetics
MH  - Phenotype
MH  - Polymorphism, Genetic/genetics
MH  - Syndrome
PMC - PMC1180483
EDAT- 2003/10/04 05:00
MHDA- 2004/08/20 05:00
PMCR- 2004/05/01
CRDT- 2003/10/04 05:00
PHST- 2003/05/15 00:00 [received]
PHST- 2003/07/29 00:00 [accepted]
PHST- 2003/10/04 05:00 [pubmed]
PHST- 2004/08/20 05:00 [medline]
PHST- 2003/10/04 05:00 [entrez]
PHST- 2004/05/01 00:00 [pmc-release]
AID - S0002-9297(07)61966-1 [pii]
AID - 40124 [pii]
AID - 10.1086/378818 [doi]
PST - ppublish
SO  - Am J Hum Genet. 2003 Nov;73(5):1027-40. doi: 10.1086/378818. Epub 2003 Oct 2.