PMID- 8365720
OWN - NLM
STAT- MEDLINE
DCOM- 19931001
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 92
IP  - 1
DP  - 1993 Aug
TI  - The origin of cytologically unidentifiable chromosome abnormalities: six cases 
      ascertained by targeted chromosome-band painting.
PG  - 1-5
AB  - De novo chromosome structural abnormalities cannot always be diagnosed by the use 
      of standard cytogenetic techniques. We applied a previously developed 
      chromosome-band-specific painting method to the diagnosis of such rearrangements. 
      The diagnostic procedures consisted of microdissection of an aberrant chromosomal 
      region of a given patient, polymerase chain reaction (PCR) amplification of the 
      dissected chromosomal DNA, and subsequent competitive fluorescence in situ 
      hybridization (FISH) using the PCR products as a probe pool on metaphase 
      chromosomes from the patient and/or a karyotypically normal person. With this 
      strategy, we studied 6 de novo rearrangements (6p+, 6q+, 9p+, 17p+, +mar, and 
      +mar) in 6 patients. These rearrangements had been seen by conventional banding 
      but their origin could not be identified. In all 6 patients, we successfully 
      ascertained the origin. Using an aberrant region-specific probe pool, FISH 
      signals appeared on both the aberrant region and a region of another specific 
      chromosome pair. A reverse probe pool that was generated through the 
      microdissection of normal chromosomes at a candidate region for the origin of the 
      aberration hybridized with both the aberrant and the candidate regions. We thus 
      diagnosed one patient with 17p+ as having trisomy for 14q32-qter, one with 9p+ as 
      having trisomy for 12pter-p12, one with 6q+ as having a tandem duplication 
      (trisomy) of a 6q23-q25 segment, one with 6p+ as having a tandem duplication 
      (trisomy) of a 6p23-q21.3 segment, one with a supernumerary metacentric marker 
      chromosome as having tetrasomy for 18pter-cen, and the last with an additional 
      small marker chromosome as having trisomy for 18p11.1 (or p11.2)-q11.2. The 
      present targeted chromosome-band-painting method provides the simple and rapid 
      preparation of a probe pool for region-specific FISH, and is useful for the 
      diagnosis of chromosome abnormalities of unknown origin.
FAU - Ohta, T
AU  - Ohta T
AD  - Department of Human Genetics, Nagasaki University School of Medicine, Japan.
FAU - Tohma, T
AU  - Tohma T
FAU - Soejima, H
AU  - Soejima H
FAU - Fukushima, Y
AU  - Fukushima Y
FAU - Nagai, T
AU  - Nagai T
FAU - Yoshiura, K
AU  - Yoshiura K
FAU - Jinno, Y
AU  - Jinno Y
FAU - Niikawa, N
AU  - Niikawa N
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Base Sequence
MH  - Child
MH  - *Chromosome Aberrations/diagnosis/*genetics
MH  - Chromosome Banding/*methods
MH  - *Chromosome Disorders
MH  - DNA
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Molecular Sequence Data
EDAT- 1993/08/01 00:00
MHDA- 1993/08/01 00:01
CRDT- 1993/08/01 00:00
PHST- 1993/08/01 00:00 [pubmed]
PHST- 1993/08/01 00:01 [medline]
PHST- 1993/08/01 00:00 [entrez]
AID - 10.1007/BF00216136 [doi]
PST - ppublish
SO  - Hum Genet. 1993 Aug;92(1):1-5. doi: 10.1007/BF00216136.