PMID- 8591669
OWN - NLM
STAT- MEDLINE
DCOM- 19960401
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 48
IP  - 4
DP  - 1995 Oct
TI  - Characterization of a ring chromosome 21 by FISH-technique.
PG  - 188-91
AB  - Ring chromosomes 21 that contain two copies of the Down syndrome critical region 
      (DCR1), thereby contributing to trisomic dosage, have not been fully 
      characterized by routine cytogenetic methods in the past. We therefore employed 
      the fluorescence in situ hybridization (FISH) technique, using a battery of 
      chromosome 21 probes and conclude that the ring resulted from a centromere to 
      centromere and long arm to long arm fusion that contains alpha-satellite DNA and 
      two copies of the D21S65 locus, but lacks beta-satellite DNA and telomeric DNA. 
      Consequently, we suggest that the origin of the ring may be due to the 
      misdivision of the centromere following the duplication of the long arm, forming 
      a monocentric isochromosome followed by breakage in a region distal to the D21S65 
      locus and proximal to the telomeric sequences followed by reunion of the broken 
      ends resulting in a monocentric ring. Different ring configurations or fragments 
      were not detected, suggesting that the ring chromosome was highly stable. 
      Apparently, the presence of two copies of Down syndrome loci within the ring 
      chromosome, along with one copy on the normal homologue, caused the clinical 
      consequences of Down syndrome.
FAU - Conte, R A
AU  - Conte RA
AD  - Division of Genetics, Long Island College Hospital, SUNY Health Science Center at 
      Brooklyn 11201, USA.
FAU - Luke, S
AU  - Luke S
FAU - Verma, R S
AU  - Verma RS
LA  - eng
PT  - Journal Article
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
RN  - 0 (DNA, Satellite)
SB  - IM
MH  - Centromere
MH  - *Chromosomes, Human, Pair 21
MH  - DNA, Satellite
MH  - Down Syndrome/diagnosis/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Infant
MH  - Male
MH  - *Ring Chromosomes
EDAT- 1995/10/01 00:00
MHDA- 1995/10/01 00:01
CRDT- 1995/10/01 00:00
PHST- 1995/10/01 00:00 [pubmed]
PHST- 1995/10/01 00:01 [medline]
PHST- 1995/10/01 00:00 [entrez]
AID - 10.1111/j.1399-0004.1995.tb04086.x [doi]
PST - ppublish
SO  - Clin Genet. 1995 Oct;48(4):188-91. doi: 10.1111/j.1399-0004.1995.tb04086.x.