PMID- 11280950
OWN - NLM
STAT- MEDLINE
DCOM- 20010809
LR  - 20220210
IS  - 1098-3600 (Print)
IS  - 1098-3600 (Linking)
VI  - 3
IP  - 2
DP  - 2001 Mar-Apr
TI  - Partial trisomy 7p defined by analysis of a complex chromosome rearrangement 
      using a BAC clone panel.
PG  - 126-31
AB  - PURPOSE: To illustrate the use of bacterial artificial chromosome (BAC) clone 
      panels for molecular cytogenetic analysis of complex chromosome rearrangements 
      (CCRs). METHODS: High resolution cytogenetics followed by fluorescence in situ 
      hybridization (FISH) analysis using chromosome band-specific BAC probes, in 
      addition to commercially available probes. RESULTS: High resolution cytogenetics 
      in conjunction with FISH using commercially available probes proved inadequate to 
      resolve problems in characterizing a balanced CCR in the mother of a patient who 
      had inherited an unbalanced form of the CCR. Accurate interpretation of the CCR 
      and the unbalanced rearrangement in the patient as trisomy 7p12.2-->p21.3 was 
      accomplished only through use of the BAC clone panel. CONCLUSION: Use of BAC 
      clone panels can enhance the power of FISH analysis in defining chromosome 
      rearrangements that cannot be resolved by high resolution chromosome analysis.
FAU - Tuck-Muller, C M
AU  - Tuck-Muller CM
AD  - Department of Medical Genetics, University of South Alabama, CCCB 286, 307 
      University Boulevard, Mobile, AL 36688-0002, USA.
FAU - Goodman, B K
AU  - Goodman BK
FAU - Li, S
AU  - Li S
FAU - Martinez, J E
AU  - Martinez JE
FAU - Chen, X N
AU  - Chen XN
FAU - Wertelecki, W
AU  - Wertelecki W
FAU - Korenberg, J R
AU  - Korenberg JR
FAU - Stetten, G
AU  - Stetten G
LA  - eng
GR  - HD33113/HD/NICHD NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, U.S. Gov't, Non-P.H.S.
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Genet Med
JT  - Genetics in medicine : official journal of the American College of Medical 
      Genetics
JID - 9815831
SB  - IM
MH  - Adolescent
MH  - *Chromosome Aberrations
MH  - *Chromosome Disorders
MH  - Chromosomes/ultrastructure
MH  - Chromosomes, Artificial, Bacterial
MH  - *Chromosomes, Human, Pair 7
MH  - Cloning, Molecular
MH  - Ear/pathology
MH  - Facies
MH  - Female
MH  - Foot/pathology
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/*genetics
MH  - Karyotyping
MH  - *Trisomy
EDAT- 2001/04/03 10:00
MHDA- 2001/08/10 10:01
CRDT- 2001/04/03 10:00
PHST- 2001/04/03 10:00 [pubmed]
PHST- 2001/08/10 10:01 [medline]
PHST- 2001/04/03 10:00 [entrez]
AID - S1098-3600(21)00878-9 [pii]
PST - ppublish
SO  - Genet Med. 2001 Mar-Apr;3(2):126-31.