PMID- 11334612
OWN - NLM
STAT- MEDLINE
DCOM- 20010621
LR  - 20191104
IS  - 0003-3995 (Print)
IS  - 0003-3995 (Linking)
VI  - 44
IP  - 1
DP  - 2001 Jan-Mar
TI  - Microdissection and reverse painting reveals a microdeletion 6(q26qter) in a de 
      novo r(6) chromosome.
PG  - 13-8
AB  - Ring chromosomes 6 are rare constitutional abnormalities with inconsistent 
      phenotypic and clinical features. One of the reasons for this variability is the 
      cytogenetically undetectable loss of chromosomal material from the telomeric 
      segments at 6p or 6q. We have therefore used fluorescence in situ hybridization 
      (FISH) to analyse a ring chromosome 6 that was detected in a newborn boy with 
      dysmorphic features. Reverse painting of the microdissected ring chromosome onto 
      normal metaphase spreads revealed a small deletion of the terminal region of the 
      long arm, 6(q26qter). Moreover, the simple all-telomeric sequence (TTAGG)n was 
      lost, whereas the p-specific subtelomeric sequence was still present. Our 
      findings confirm that microdeletions occur during the formation of r(6) 
      chromosomes and, therefore, are an important determinator of the associated 
      phenotype.
FAU - Birnbacher, R
AU  - Birnbacher R
AD  - Pediatric Clinic, Medical School, University, Vienna, Austria.
FAU - Chudoba, I
AU  - Chudoba I
FAU - Pirc-Danoewinata, H
AU  - Pirc-Danoewinata H
FAU - Konig, M
AU  - Konig M
FAU - Kohlhauser, C
AU  - Kohlhauser C
FAU - Schnedl, W
AU  - Schnedl W
FAU - Haas, O A
AU  - Haas OA
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - Netherlands
TA  - Ann Genet
JT  - Annales de genetique
JID - 0370562
SB  - IM
MH  - Adult
MH  - Apgar Score
MH  - *Chromosome Deletion
MH  - Chromosome Mapping
MH  - Chromosome Painting
MH  - *Chromosomes, Human, Pair 6
MH  - Female
MH  - Fetal Blood
MH  - Humans
MH  - Infant, Newborn
MH  - Male
MH  - Pregnancy
MH  - *Ring Chromosomes
RF  - 27
EDAT- 2001/05/04 10:00
MHDA- 2001/06/22 10:01
CRDT- 2001/05/04 10:00
PHST- 2001/05/04 10:00 [pubmed]
PHST- 2001/06/22 10:01 [medline]
PHST- 2001/05/04 10:00 [entrez]
AID - S0003-3995(00)01033-9 [pii]
AID - 10.1016/s0003-3995(00)01033-9 [doi]
PST - ppublish
SO  - Ann Genet. 2001 Jan-Mar;44(1):13-8. doi: 10.1016/s0003-3995(00)01033-9.