PMID- 12574939
OWN - NLM
STAT- MEDLINE
DCOM- 20030516
LR  - 20181113
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 112
IP  - 4
DP  - 2003 Apr
TI  - Chromosome 18 replaced by two ring chromosomes of chromosome 18 origin.
PG  - 343-7
AB  - We here describe the first example of the replacement of an autosome by two ring 
      chromosomes originating from the missing chromosome, presented in a patient with 
      a single chromosome 18 and two additional ring chromosomes. Detailed fluorescence 
      in situ hybridization (FISH) analysis revealed the chromosome 18 origin of both 
      ring chromosomes and characterized the small and the large ring chromosome as 
      derivatives of the short and long arm of chromosome 18, respectively. The loss of 
      subtelomeric regions of the short and the long arm of chromosome 18 in the ring 
      chromosomes was confirmed by FISH studies. Molecular studies showed the exclusive 
      presence of the paternal alleles for microsatellite markers located distal to the 
      short and long arm loci D18S843 and D18S474, respectively. This indicates the 
      maternal origin of both rings and provides evidence for substantial deletions of 
      the distal parts of both arms of chromosome 18 in the ring chromosomes. The 
      dysmorphic features of the patient can be explained by these deletions in both 
      chromosome arms, as the clinical findings partly overlap with observations in 
      18p- and 18q-syndrome and are similar to some cases of ring chromosome 18. 
      Centromere misdivision is suggested as one mechanism involved in the formation of 
      the ring chromosomes.
FAU - Miller, K
AU  - Miller K
AD  - Institute of Human Genetics, Hannover Medical University, 30623 Hannover, 
      Germany. miller.konstantin@mh-hannover.de
FAU - Pabst, B
AU  - Pabst B
FAU - Ritter, H
AU  - Ritter H
FAU - Nurnberg, P
AU  - Nurnberg P
FAU - Siebert, R
AU  - Siebert R
FAU - Schmidtke, J
AU  - Schmidtke J
FAU - Arslan-Kirchner, M
AU  - Arslan-Kirchner M
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20030206
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Abnormalities, Multiple/genetics
MH  - Alleles
MH  - Centromere/genetics
MH  - Chromosomes, Human, Pair 18/*genetics
MH  - Female
MH  - Genetic Markers
MH  - Genotype
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Microsatellite Repeats
MH  - *Ring Chromosomes
MH  - Syndrome
EDAT- 2003/02/08 04:00
MHDA- 2003/05/17 05:00
CRDT- 2003/02/08 04:00
PHST- 2002/08/29 00:00 [received]
PHST- 2002/11/20 00:00 [accepted]
PHST- 2003/02/08 04:00 [pubmed]
PHST- 2003/05/17 05:00 [medline]
PHST- 2003/02/08 04:00 [entrez]
AID - 10.1007/s00439-002-0885-1 [doi]
PST - ppublish
SO  - Hum Genet. 2003 Apr;112(4):343-7. doi: 10.1007/s00439-002-0885-1. Epub 2003 Feb 
      6.