PMID- 15004460
OWN - NLM
STAT- MEDLINE
DCOM- 20040528
LR  - 20171101
IS  - 1424-859X (Electronic)
IS  - 1424-8581 (Linking)
VI  - 103
IP  - 1-2
DP  - 2003
TI  - Characterization of the first supernumerary tricentric ring chromosome 1 
      mosaicism by conventional and molecular cytogenetic techniques.
PG  - 28-33
AB  - We report on the conventional cytogenetic and fluorescence in situ hybridization 
      (FISH) results obtained for a 3.5-year-old girl with developmental and language 
      delay and a supernumerary ring chromosome mosaicism in 8% of T-lymphocytes 
      analyzed. Using different conventional and molecular cytogenetic techniques as 
      YAC hybridization and comparative genomic hybridization, we could show that the 
      extra tricentric ring chromosome consists of three heterochromatic blocks with 
      inserted euchromatic material. Additionally, chromosome microdissection followed 
      by FISH analysis demonstrated that the small tricentric ring chromosome consisted 
      of material from the pericentromeric region of chromosome 1q21. Thus, the patient 
      has a mosaic of normal cells and cells with partial pentasomy of the 
      pericentromeric region of chromosome 1. So far, 19 cases with single 
      supernumerary marker chromosome 1 have been published, but no tricentric ring 
      chromosome 1 is, to our knowledge, reviewed in the literature. In this study, we 
      compare the clinical features of our patient with cytogenetically comparable 
      cases described in the literature. We introduce a hypothesis for the formation of 
      a tricentric ring chromosome: starting with a monocentric ring, sister chromatid 
      exchange leading to the formation of a tetracentric ring, which underwent 
      intrastrand recombination generating the tricentric ring.
FAU - Tonnies, H
AU  - Tonnies H
AD  - Institute of Human Genetics, Charite, Campus Virchow Klinikum, Humboldt 
      University, Berlin, Germany. Holger.Toennies@charite.de
FAU - Hennies, H C
AU  - Hennies HC
FAU - Spohr, H L
AU  - Spohr HL
FAU - Neitzel, H
AU  - Neitzel H
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Switzerland
TA  - Cytogenet Genome Res
JT  - Cytogenetic and genome research
JID - 101142708
SB  - IM
MH  - Child, Preschool
MH  - Chromosome Banding
MH  - *Chromosomes, Human, Pair 1
MH  - Cytogenetic Analysis
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Language Development Disorders/diagnosis/*genetics
MH  - *Mosaicism
MH  - Motor Skills Disorders/diagnosis/*genetics
MH  - Nucleic Acid Hybridization
MH  - *Ring Chromosomes
EDAT- 2004/03/09 05:00
MHDA- 2004/05/29 05:00
CRDT- 2004/03/09 05:00
PHST- 2003/08/14 00:00 [received]
PHST- 2003/09/29 00:00 [accepted]
PHST- 2004/03/09 05:00 [pubmed]
PHST- 2004/05/29 05:00 [medline]
PHST- 2004/03/09 05:00 [entrez]
AID - 76285 [pii]
AID - 10.1159/000076285 [doi]
PST - ppublish
SO  - Cytogenet Genome Res. 2003;103(1-2):28-33. doi: 10.1159/000076285.