PMID- 11074491
OWN - NLM
STAT- MEDLINE
DCOM- 20001130
LR  - 20190906
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 95
IP  - 1
DP  - 2000 Nov 6
TI  - Usefulness and limitations of FISH to characterize partially cryptic complex 
      chromosome rearrangements.
PG  - 28-35
AB  - Interpretation of a complex chromosome rearrangement (CCR) using only G-band 
      analysis is difficult and potentially inaccurate. We present two patients with de 
      novo, partially cryptic, CCRs that illustrate both the value and limitations of 
      using fluorescence in situ hybridization (FISH) whole chromosome paint probes to 
      characterize these types of rearrangements. In a patient referred because of 
      features of Townes-Brocks syndrome, G-band analysis revealed an unbalanced CCR 
      involving 3 chromosomes (2,11 and 16) and at least 4 breakpoints. A more complex 
      rearrangement involving two cryptic insertions and at least 6 breakpoints, 
      however, was detected using whole chromosome paint probes specific for the 3 
      chromosomes involved in the rearrangement. In this case, FISH studies were 
      essential for accurate characterization of this patient's rearrangement. In a 
      second patient, G-band analysis revealed that a 12-year-old male with obesity, 
      small genitalia, attention deficit disorder, learning disabilities, and behavior 
      problems, carried a CCR involving 4 chromosomes (3, 5, 10 and 13) with 6 
      breakpoints. This rearrangement seemed unbalanced, with missing terminal 3p26. 
      2-pter material. Our G-band interpretation of this karyotype was confirmed by 
      FISH using whole chromosome paint probes specific for the involved chromosomes. 
      Although no evidence of the "missing" 3pter material was observed using a 
      chromosome 3 paint, FISH analysis using a chromosome 3p unique telomere probe 
      identified telomeric 3p material on the distal long arm of the derivative 10 
      chromosome. This case illustrates the limited value of painting probes to detect 
      small rearrangements, especially those involving terminal chromosome regions.
CI  - Copyright 2000 Wiley-Liss, Inc.
FAU - Kaiser-Rogers, K A
AU  - Kaiser-Rogers KA
AD  - Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel 
      Hill, North Carolina 27599, USA. krogers@css.unc.edu
FAU - Rao, K W
AU  - Rao KW
FAU - Michaelis, R C
AU  - Michaelis RC
FAU - Lese, C M
AU  - Lese CM
FAU - Powell, C M
AU  - Powell CM
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Abnormalities, Multiple/genetics/pathology
MH  - Anus, Imperforate/genetics/pathology
MH  - Child
MH  - Chromosome Aberrations
MH  - Chromosome Banding
MH  - Developmental Disabilities/genetics/pathology
MH  - Female
MH  - Hearing Loss, Sensorineural/genetics/pathology
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Infant
MH  - Karyotyping
MH  - Male
MH  - Sensitivity and Specificity
MH  - Syndrome
MH  - *Translocation, Genetic
EDAT- 2000/11/14 11:00
MHDA- 2001/02/28 10:01
CRDT- 2000/11/14 11:00
PHST- 2000/11/14 11:00 [pubmed]
PHST- 2001/02/28 10:01 [medline]
PHST- 2000/11/14 11:00 [entrez]
AID - 10.1002/1096-8628(20001106)95:1<28::AID-AJMG7>3.0.CO;2-C [pii]
AID - 10.1002/1096-8628(20001106)95:1<28::aid-ajmg7>3.0.co;2-c [doi]
PST - ppublish
SO  - Am J Med Genet. 2000 Nov 6;95(1):28-35. doi: 
      10.1002/1096-8628(20001106)95:1<28::aid-ajmg7>3.0.co;2-c.