PMID- 8737654
OWN - NLM
STAT- MEDLINE
DCOM- 19961209
LR  - 20111117
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 63
IP  - 3
DP  - 1996 Jun 14
TI  - Diagnosis of four chromosome abnormalities of unknown origin by chromosome 
      microdissection and subsequent reverse and forward painting.
PG  - 468-71
AB  - A molecular cytogenetic method consisting of chromosome microdissection and 
      subsequent reverse/forward chromosome painting is a powerful tool to identify 
      chromosome abnormalities of unknown origin. We present 4 cases of chromosome 
      structural abnormalities whose origins were ascertained by this method. In one 
      MCA/MR patient with an add(5q)chromosome, fluorescence in situ hybridization 
      (FISH), using probes generated from a microdissected additional segment of the 
      add(5q) chromosome and then from a distal region of normal chromosome 5, 
      confirmed that the patient had a tandem duplication for a 5q35-qter segment. 
      Similarly, we ascertained that an additional segment of an add(3p) chromosome in 
      another MCA/MR patient had been derived from a 7q32-qter segment. In a woman with 
      a history of successive spontaneous abortions and with a minute marker 
      chromosome, painting using microdissected probes from the whole marker chromosome 
      revealed that it was i(15)(p10) or psu dic(15;15)(q11;q11). Likewise, a marker 
      observed in a fetus was a ring chromosome derived from the paracentromeric region 
      of chromosome 19. We emphasize the value of the microdissection-based chromosome 
      painting method in the identification of unknown chromosomes, especially for 
      marker chromosomes. The method may contribute to a collection of data among 
      patients with similar or identical chromosome abnormalities, which may lead to a 
      better clinical syndrome delineation.
FAU - Coelho, K E
AU  - Coelho KE
AD  - Department of Human Genetics, Nagasaki University School of Medicine, Japan.
FAU - Egashira, M
AU  - Egashira M
FAU - Kato, R
AU  - Kato R
FAU - Fujimoto, M
AU  - Fujimoto M
FAU - Matsumoto, N
AU  - Matsumoto N
FAU - Rerkamnuaychoke, B
AU  - Rerkamnuaychoke B
FAU - Abe, K
AU  - Abe K
FAU - Harada, N
AU  - Harada N
FAU - Ohashi, H
AU  - Ohashi H
FAU - Fukushima, Y
AU  - Fukushima Y
FAU - Niikawa, N
AU  - Niikawa N
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Abnormalities, Multiple/genetics
MH  - Adult
MH  - Base Sequence
MH  - Chorionic Villi Sampling
MH  - *Chromosome Aberrations/*diagnosis/*genetics
MH  - Chromosome Banding/*methods
MH  - *Chromosome Disorders
MH  - Chromosomes, Human, Pair 19
MH  - Chromosomes, Human, Pair 5
MH  - Chromosomes, Human, Pair 7
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/genetics
MH  - Karyotyping
MH  - Molecular Sequence Data
MH  - Polymerase Chain Reaction
MH  - Pregnancy
MH  - Trisomy
EDAT- 1996/06/14 00:00
MHDA- 2000/06/20 09:00
CRDT- 1996/06/14 00:00
PHST- 1996/06/14 00:00 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1996/06/14 00:00 [entrez]
AID - 10.1002/(SICI)1096-8628(19960614)63:3<468::AID-AJMG10>3.0.CO;2-K [pii]
AID - 10.1002/(SICI)1096-8628(19960614)63:3<468::AID-AJMG10>3.0.CO;2-K [doi]
PST - ppublish
SO  - Am J Med Genet. 1996 Jun 14;63(3):468-71. doi: 
      10.1002/(SICI)1096-8628(19960614)63:3<468::AID-AJMG10>3.0.CO;2-K.