Partial trisomy 7p defined by analysis of a complex chromosome rearrangement using a BAC clone panel.
To illustrate the use of bacterial artificial chromosome (BAC) clone panels for molecular cytogenetic analysis of complex chromosome rearrangements (CCRs).



High resolution cytogenetics followed by fluorescence in situ hybridization (FISH) analysis using chromosome band-specific BAC probes, in addition to commercially available probes.



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.



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.
Tuck-Muller
C M
CM
Department of Medical Genetics, University of South Alabama, CCCB 286, 307 University Boulevard, Mobile, AL 36688-0002, USA.
Goodman
B K
BK
Li
S
S
Martinez
J E
JE
Chen
X N
XN
Wertelecki
W
W
Korenberg
J R
JR
Stetten
G
G
D000293:Adolescent; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002875:Chromosomes / Q000648:ultrastructure; D022202:Chromosomes, Artificial, Bacterial; D002897:Chromosomes, Human, Pair 7; D003001:Cloning, Molecular; D004423:Ear / Q000473:pathology; D019066:Facies; D005260:Female; D005528:Foot / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D014314:Trisomy