PMID- 7625446
OWN - NLM
STAT- MEDLINE
DCOM- 19950828
LR  - 20041117
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 56
IP  - 2
DP  - 1995 Mar 27
TI  - Chromosome instability in ICF syndrome: formation of micronuclei from 
      multibranched chromosomes 1 demonstrated by fluorescence in situ hybridization.
PG  - 203-9
AB  - We report on a new patient with immunodeficiency, centromeric heterochromatin 
      instability, and facial anomalies (the ICF syndrome). Studies with traditional 
      cytogenetic methods demonstrate that aberrations in this syndrome primarily 
      involve the centromeric regions of chromosomes 1 and 16. We applied fluorescence 
      in situ hybridization (FISH) using "painting" probes for chromosomes 1 and 16 to 
      document the progression of centromeric instability from simple decondensation 
      aberrations to the subsequent formation of complex multibranched chromosomes 1, 
      and finally to the interphase aberrations of nuclear projections and micronuclei 
      involving both chromosomes 1 and 16. The loss of the large multibranched 
      chromosome 1 configurations from the cells as micronuclei suggests that the 
      centromeric aberrations subsequently interfere with normal chromosome movement at 
      anaphase in ICF syndrome. Circular areas of counterstained chromatin were 
      observed by FISH in the micronuclei corresponding to the intertwined segments of 
      centromeric heterochromatin seen involving multibranched chromosomes 1 in the 
      patient's G-banded chromosome study. The current hypothesis of recessive 
      inheritance for this disorder suggests that the chromosomal aberrations are not a 
      causative event in this syndrome; however, the chromosome aberrations are clearly 
      an important basic diagnostic criterion.
FAU - Sawyer, J R
AU  - Sawyer JR
AD  - Department of Pathology, University of Arkansas for Medical Sciences, Arkansas 
      Children's Hospital, Little Rock 72202, USA.
FAU - Swanson, C M
AU  - Swanson CM
FAU - Wheeler, G
AU  - Wheeler G
FAU - Cunniff, C
AU  - Cunniff C
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (Heterochromatin)
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Centromere/pathology
MH  - *Chromosome Aberrations
MH  - Chromosome Banding
MH  - *Chromosomes, Human, Pair 1
MH  - Chromosomes, Human, Pair 16
MH  - Face/abnormalities
MH  - Heterochromatin/genetics/pathology
MH  - Humans
MH  - Immunologic Deficiency Syndromes/genetics
MH  - *In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Male
MH  - Micronuclei, Chromosome-Defective/*genetics/pathology
MH  - Syndrome
EDAT- 1995/03/27 00:00
MHDA- 1995/03/27 00:01
CRDT- 1995/03/27 00:00
PHST- 1995/03/27 00:00 [pubmed]
PHST- 1995/03/27 00:01 [medline]
PHST- 1995/03/27 00:00 [entrez]
AID - 10.1002/ajmg.1320560218 [doi]
PST - ppublish
SO  - Am J Med Genet. 1995 Mar 27;56(2):203-9. doi: 10.1002/ajmg.1320560218.