PMID- 24151566
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20131023
LR  - 20211021
IS  - 2090-6544 (Print)
IS  - 2090-6552 (Electronic)
IS  - 2090-6552 (Linking)
VI  - 2013
DP  - 2013
TI  - Persistent mosaicism for 12p duplication/triplication chromosome structural 
      abnormality in peripheral blood.
PG  - 857926
LID - 10.1155/2013/857926 [doi]
LID - 857926
AB  - We present a rare case of mosaicism for a structural abnormality of chromosome 12 
      in a patient with phenotypic features of Pallister-Killian syndrome. A 
      six-month-old child with dysmorphic features, exotropia, hypotonia, and 
      developmental delay was mosaic for both a normal karyotype and a cell line with 
      12p duplication/triplication in 25 percent of metaphase cells. Utilization of 
      fluorescence in situ hybridization (FISH) identified three copies of probes from 
      the end of the short arm of chromosome 12 (TEL(12p13) locus and the subtelomere 
      (12p terminal)) on the structurally abnormal chromosome 12. Genome-wide SNP array 
      analysis revealed that the regions of duplication and triplication were of 
      maternal origin. The abnormal cell line in our patient was present at 25 percent 
      at six months and 19 months of age in both metaphase and interphase cells from 
      peripheral blood, where typically the isochromosome 12p is absent in the newborn. 
      This may suggest that the gene(s) resulting in a growth disadvantage of abnormal 
      cells in peripheral blood of patients with tetrasomy 12p may not have the same 
      influence when present in only three copies.
FAU - Shackelford, Amy L
AU  - Shackelford AL
AD  - Department of Pathology, West Virginia University, Morgantown, WV 26506-9203, 
      USA.
FAU - Conlin, Laura K
AU  - Conlin LK
FAU - Hummel, Marybeth
AU  - Hummel M
FAU - Spinner, Nancy B
AU  - Spinner NB
FAU - Wenger, Sharon L
AU  - Wenger SL
LA  - eng
PT  - Journal Article
DEP - 20130915
PL  - United States
TA  - Case Rep Genet
JT  - Case reports in genetics
JID - 101583302
PMC - PMC3787625
EDAT- 2013/10/24 06:00
MHDA- 2013/10/24 06:01
PMCR- 2013/09/15
CRDT- 2013/10/24 06:00
PHST- 2013/05/31 00:00 [received]
PHST- 2013/07/18 00:00 [accepted]
PHST- 2013/10/24 06:00 [entrez]
PHST- 2013/10/24 06:00 [pubmed]
PHST- 2013/10/24 06:01 [medline]
PHST- 2013/09/15 00:00 [pmc-release]
AID - 10.1155/2013/857926 [doi]
PST - ppublish
SO  - Case Rep Genet. 2013;2013:857926. doi: 10.1155/2013/857926. Epub 2013 Sep 15.