PMID- 8375103
OWN - NLM
STAT- MEDLINE
DCOM- 19931021
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 43
IP  - 5
DP  - 1993 May
TI  - Chromosome painting using FISH (fluorescence in situ hybridization) with 
      chromosome-6-specific library demonstrates the origin of a de novo 6q+ marker 
      chromosome.
PG  - 235-9
AB  - We report the application of chromosome painting using FISH (fluorescence) in 
      situ hybridization) to demonstrate the origin of a de novo 6q+ marker chromosome. 
      A girl with a mental retardation/multiple malformation syndrome was shown to have 
      the karyotype 46,XX, 6q+. Banding analysis could not determine the origin of the 
      extra chromosomal material. Using FISH with a chromosome-6-specific library we 
      showed that the marker chromosome was completely painted, indicating an origin 
      from chromosome 6. The child's phenotype was compared with previously reported 
      cases with partial chromosome 6 trisomy. A clinically recognized syndrome 
      emerged, although she apparently also demonstrated novel features.
FAU - Brondum-Nielsen, K
AU  - Brondum-Nielsen K
AD  - Department of Medical Genetics, Odense University, Denmark.
FAU - Bajalica, S
AU  - Bajalica S
FAU - Wulff, K
AU  - Wulff K
FAU - Mikkelsen, M
AU  - Mikkelsen M
LA  - eng
PT  - Case Reports
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Abnormalities, Multiple/genetics
MH  - *Chromosomes, Human, Pair 6
MH  - Female
MH  - Gene Rearrangement
MH  - Genetic Markers
MH  - *Genomic Library
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Intellectual Disability/genetics
MH  - Karyotyping
MH  - Phenotype
MH  - Suppression, Genetic
MH  - *Trisomy
EDAT- 1993/05/01 00:00
MHDA- 1993/05/01 00:01
CRDT- 1993/05/01 00:00
PHST- 1993/05/01 00:00 [pubmed]
PHST- 1993/05/01 00:01 [medline]
PHST- 1993/05/01 00:00 [entrez]
AID - 10.1111/j.1399-0004.1993.tb03809.x [doi]
PST - ppublish
SO  - Clin Genet. 1993 May;43(5):235-9. doi: 10.1111/j.1399-0004.1993.tb03809.x.