PMID- 25339348
OWN - NLM
STAT- MEDLINE
DCOM- 20150818
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 167A
IP  - 1
DP  - 2015 Jan
TI  - Ring 18 molecular assessment and clinical consequences.
PG  - 54-63
LID - 10.1002/ajmg.a.36822 [doi]
AB  - Ring chromosome 18 is a rare condition which has predominantly been described by 
      case reports and small case series. We assessed a cohort of 30 individuals with 
      ring 18 using both microarray comparative genomic hybridization (aCGH) and 
      fluorescence in situ hybridization (FISH). We determined that each participant 
      had a unique combination of hemizygosity for the p and q arms. Four ring 
      chromosomes had no detectable deletion of one of the chromosome arms using aCGH. 
      However, two of these ring chromosomes had telomeric sequences detected using 
      FISH. These data confirm the importance of molecular and cytogenetic analysis to 
      determine both chromosome content and morphology. We failed to find dramatic 
      changes in mosaicism percentage between cytogenetic measurements made at the time 
      of diagnosis and those made years later at the time of this study, demonstrating 
      that dynamic ring mosaicism is unlikely to be a major cause of phenotypic 
      variability in the ring 18 population. Lastly, we present data on the clinical 
      features present in our cohort, though the extreme genotypic variability makes it 
      impossible to draw direct genotype-phenotype correlations. Future work will focus 
      on determining the role of specific hemizygous genes in order to create 
      individualized projections of the effect of each person's specific ring 18 
      compliment.
CI  - (c) 2014 Wiley Periodicals, Inc.
FAU - Carter, Erika
AU  - Carter E
AD  - Department of Pediatrics, University of Texas Health Science Center, San Antonio, 
      Texas.
FAU - Heard, Patricia
AU  - Heard P
FAU - Hasi, Minire
AU  - Hasi M
FAU - Soileau, Bridgette
AU  - Soileau B
FAU - Sebold, Courtney
AU  - Sebold C
FAU - Hale, Daniel E
AU  - Hale DE
FAU - Cody, Jannine D
AU  - Cody JD
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20141022
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - Chromosome 18 ring
SB  - IM
MH  - Behavior
MH  - Chromosome Breakage
MH  - Chromosomes, Human, Pair 18/genetics
MH  - Comparative Genomic Hybridization
MH  - *Cytogenetic Analysis
MH  - Humans
MH  - Mosaicism
MH  - Phenotype
MH  - Ring Chromosomes
OTO - NOTNLM
OT  - chromosome 18
OT  - mosaicism
OT  - ring chromosome 18
EDAT- 2014/10/24 06:00
MHDA- 2015/08/19 06:00
CRDT- 2014/10/24 06:00
PHST- 2014/04/04 00:00 [received]
PHST- 2014/09/12 00:00 [accepted]
PHST- 2014/10/24 06:00 [entrez]
PHST- 2014/10/24 06:00 [pubmed]
PHST- 2015/08/19 06:00 [medline]
AID - 10.1002/ajmg.a.36822 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2015 Jan;167A(1):54-63. doi: 10.1002/ajmg.a.36822. Epub 2014 
      Oct 22.