PMID- 24398791
OWN - NLM
STAT- MEDLINE
DCOM- 20150330
LR  - 20220331
IS  - 1476-5438 (Electronic)
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 22
IP  - 8
DP  - 2014 Aug
TI  - Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 
      consecutive cases.
PG  - 969-78
LID - 10.1038/ejhg.2013.285 [doi]
AB  - Somatic chromosomal mosaicism arising from post-zygotic errors is known to cause 
      several well-defined genetic syndromes as well as contribute to phenotypic 
      variation in diseases. However, somatic mosaicism is often under-diagnosed due to 
      challenges in detection. We evaluated 10,362 patients with a custom-designed, 
      exon-targeted whole-genome oligonucleotide array and detected somatic mosaicism 
      in a total of 57 cases (0.55%). The mosaicism was characterized and confirmed by 
      fluorescence in situ hybridization (FISH) and/or chromosome analysis. Different 
      categories of abnormal cell lines were detected: (1) aneuploidy, including sex 
      chromosome abnormalities and isochromosomes (22 cases), (2) ring or marker 
      chromosomes (12 cases), (3) single deletion/duplication copy number variations 
      (CNVs) (11 cases), (4) multiple deletion/duplication CNVs (5 cases), (5) exonic 
      CNVs (4 cases), and (6) unbalanced translocations (3 cases). Levels of mosaicism 
      calculated based on the array data were in good concordance with those observed 
      by FISH (10-93%). Of the 14 cases evaluated concurrently by chromosome analysis, 
      mosaicism was detected solely by the array in 4 cases (29%). In summary, our 
      exon-targeted array further expands the diagnostic capability of high-resolution 
      array comparative genomic hybridization in detecting mosaicism for cytogenetic 
      abnormalities as well as small CNVs in disease-causing genes.
FAU - Pham, Justin
AU  - Pham J
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      TX, USA.
FAU - Shaw, Chad
AU  - Shaw C
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      TX, USA.
FAU - Pursley, Amber
AU  - Pursley A
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      TX, USA.
FAU - Hixson, Patricia
AU  - Hixson P
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      TX, USA.
FAU - Sampath, Srirangan
AU  - Sampath S
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      TX, USA.
FAU - Roney, Erin
AU  - Roney E
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      TX, USA.
FAU - Gambin, Tomasz
AU  - Gambin T
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      TX, USA.
FAU - Kang, Sung-Hae L
AU  - Kang SH
AD  - Allina Medical Laboratories, Minneapolis, MN, USA.
FAU - Bi, Weimin
AU  - Bi W
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      TX, USA.
FAU - Lalani, Seema
AU  - Lalani S
AD  - 1] Department of Molecular and Human Genetics, Baylor College of Medicine, 
      Houston, TX, USA [2] Texas Children's Hospital, Houston, TX, USA.
FAU - Bacino, Carlos
AU  - Bacino C
AD  - 1] Department of Molecular and Human Genetics, Baylor College of Medicine, 
      Houston, TX, USA [2] Texas Children's Hospital, Houston, TX, USA.
FAU - Lupski, James R
AU  - Lupski JR
AD  - 1] Department of Molecular and Human Genetics, Baylor College of Medicine, 
      Houston, TX, USA [2] Texas Children's Hospital, Houston, TX, USA [3] Department 
      of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
FAU - Stankiewicz, Pawel
AU  - Stankiewicz P
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      TX, USA.
FAU - Patel, Ankita
AU  - Patel A
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      TX, USA.
FAU - Cheung, Sau-Wai
AU  - Cheung SW
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      TX, USA.
LA  - eng
GR  - U54 HD083092/HD/NICHD NIH HHS/United States
PT  - Journal Article
DEP - 20140108
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aneuploidy
MH  - Cell Line
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Aberrations
MH  - Chromosome Disorders/diagnosis/genetics
MH  - Comparative Genomic Hybridization/*methods
MH  - *Exons
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - *Mosaicism
MH  - Mutation
MH  - Young Adult
PMC - PMC4350600
EDAT- 2014/01/09 06:00
MHDA- 2015/03/31 06:00
PMCR- 2014/08/01
CRDT- 2014/01/09 06:00
PHST- 2013/04/12 00:00 [received]
PHST- 2013/11/08 00:00 [revised]
PHST- 2013/11/20 00:00 [accepted]
PHST- 2014/01/09 06:00 [entrez]
PHST- 2014/01/09 06:00 [pubmed]
PHST- 2015/03/31 06:00 [medline]
PHST- 2014/08/01 00:00 [pmc-release]
AID - ejhg2013285 [pii]
AID - 10.1038/ejhg.2013.285 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 2014 Aug;22(8):969-78. doi: 10.1038/ejhg.2013.285. Epub 2014 Jan 
      8.