PMID- 26436922
OWN - NLM
STAT- MEDLINE
DCOM- 20161019
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 170A
IP  - 1
DP  - 2016 Jan
TI  - Mosaic deletion of 20pter due to rescue by somatic recombination.
PG  - 243-8
LID - 10.1002/ajmg.a.37407 [doi]
AB  - We report on a unique case of a mosaic 20pter-p13 deletion due to a somatic 
      repair event identified by allele differentiating single nucleotide polymorphism 
      (SNP) probes on chromosomal microarray. Small terminal deletions of 20p have been 
      reported in a few individuals and appear to result in a variable phenotype. This 
      patient was a 24-month-old female who presented with failure to thrive and speech 
      delay. Chromosomal microarray analysis (CMA) performed on peripheral blood showed 
      a 1.6 Mb deletion involving the terminus of 20p (20pter-20p13). This deletion 
      appeared mosaic by CMA and this suspicion was confirmed by fluorescence in situ 
      hybridization (FISH) analysis. Additionally, the deletion interval at 20p was 
      directly adjacent to 15 Mb of mosaic copy-neutral loss of heterozygosity (LOH). 
      The pattern of SNP probes was highly suggestive of a somatic repair event that 
      resulted in rescue of the deleted region using the non-deleted homologue as a 
      template. Structural mosaicism is rare and most often believed to be due to a 
      postzygotic mechanism. This case demonstrates the additional utility of allele 
      patterns to help distinguish mechanisms and in this case identified the 
      possibility of either a post-zygotic repair of a germline deletion or a 
      post-zygotic deletion with somatic recombination repair in a single step.
CI  - (c) 2015 Wiley Periodicals, Inc.
FAU - Martin, Megan M
AU  - Martin MM
AD  - Lineagen, Inc., Salt Lake City, Utah.
FAU - Vanzo, Rena J
AU  - Vanzo RJ
AD  - Lineagen, Inc., Salt Lake City, Utah.
FAU - Sdano, Mallory R
AU  - Sdano MR
AD  - Lineagen, Inc., Salt Lake City, Utah.
FAU - Baxter, Adrianne L
AU  - Baxter AL
AD  - Lineagen, Inc., Salt Lake City, Utah.
FAU - South, Sarah T
AU  - South ST
AD  - Department of Pediatrics and Pathology, University of Utah, Salt Lake City, Utah.
AD  - ARUP Laboratories, Salt Lake City, Utah.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20151005
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Child, Preschool
MH  - Chromosomes, Human, Pair 20/*genetics
MH  - Failure to Thrive/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Language Development Disorders/*genetics
MH  - Megalencephaly/genetics
MH  - *Mosaicism
MH  - Oligonucleotide Array Sequence Analysis
MH  - Polymorphism, Single Nucleotide/genetics
MH  - Recombination, Genetic/genetics
MH  - Sequence Deletion/*genetics
OTO - NOTNLM
OT  - 20p terminal deletion
OT  - chromosomal mosaicism
OT  - del 20pter-p13
OT  - microarray analysis
OT  - single nucleotide polymorphism array
OT  - somatic repair
EDAT- 2015/10/06 06:00
MHDA- 2016/12/30 06:00
CRDT- 2015/10/06 06:00
PHST- 2014/11/07 00:00 [received]
PHST- 2015/09/06 00:00 [accepted]
PHST- 2015/10/06 06:00 [entrez]
PHST- 2015/10/06 06:00 [pubmed]
PHST- 2016/12/30 06:00 [medline]
AID - 10.1002/ajmg.a.37407 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2016 Jan;170A(1):243-8. doi: 10.1002/ajmg.a.37407. Epub 2015 
      Oct 5.