PMID- 10710223
OWN - NLM
STAT- MEDLINE
DCOM- 20000414
LR  - 20190905
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 90
IP  - 4
DP  - 2000 Feb 14
TI  - Preferential involvement of the short arm in chromosome 8-derived supernumerary 
      markers and ring as identified by chromosome arm painting.
PG  - 276-82
AB  - We report on the use of fluorescence in situ hybridization (FISH) with specific 
      chromosome 8 arm painting to characterize further small supernumerary chromosome 
      8-derived markers/rings (SMC/SRC) identified in three patients. Two patients 
      (patients 1 and 2) who carried the marker (SMC) were evaluated because of mental 
      retardation and minor facial anomalies. The patient (patient 3) who carried the 
      ring (SRC) had ventriculomegaly. Parental blood chromosomes of patients 2 and 3 
      were normal and unavailable on patient 1. The identification of the SMC/SRC was 
      first characterized by FISH specific alpha-repeat centromeric probes, second by 
      FISH whole chromosome painting (WCP), and finally by FISH chromosome arm painting 
      (CAP). The latter showed involvement of only the short arm of chromosome 8 in all 
      three SMC/SRC cases, suggesting a U-type exchange mechanism.
FAU - Batanian, J R
AU  - Batanian JR
AD  - Department of Pediatrics, Saint Louis University, Cardinal Glennon Children's 
      Hospital, St. Louis, Missouri 63104, USA. batanijr@slu.edu
FAU - Huang, Y
AU  - Huang Y
FAU - Gottesman, G S
AU  - Gottesman GS
FAU - Grange, D K
AU  - Grange DK
FAU - Blasingame, A V
AU  - Blasingame AV
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Child, Preschool
MH  - *Chromosome Painting
MH  - *Chromosomes, Human, Pair 8
MH  - *Genetic Markers
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Male
RF  - 16
EDAT- 2000/03/10 09:00
MHDA- 2000/04/25 09:00
CRDT- 2000/03/10 09:00
PHST- 2000/03/10 09:00 [pubmed]
PHST- 2000/04/25 09:00 [medline]
PHST- 2000/03/10 09:00 [entrez]
AID - 10.1002/(SICI)1096-8628(20000214)90:4<276::AID-AJMG3>3.0.CO;2-I [pii]
AID - 10.1002/(sici)1096-8628(20000214)90:4<276::aid-ajmg3>3.0.co;2-i [doi]
PST - ppublish
SO  - Am J Med Genet. 2000 Feb 14;90(4):276-82. doi: 
      10.1002/(sici)1096-8628(20000214)90:4<276::aid-ajmg3>3.0.co;2-i.