A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexityKavita S Reddy
Medical Genetics and Genomics Laboratory, Kaiser Permanente Southern California, Los Angeles, California, USA
Genet Med 15:3-13. 2013
..In this study, a valid genotype-to-phenotype correlation was possible because the supernumerary marker chromosomes were fully characterized by array-based comparative genomic hybridization in a genome-wide analysis...
- Contemplations on preclinical validation of fluorescence in situ hybridization probe assay for paraffin-embedded tissues in hematologic disorders
Kavita S Reddy
Genzyme Genetics, New York 10019, USA
Cancer Genet Cytogenet 183:1-5. 2008
..Although the procedure focuses on dual-color, dual-fusion FISH assays, the same steps could be used for any type of probe. We have described a preclinical validation for probes on paraffin-embedded tissue...
- Blastic mantle cell lymphoma with a Burkitt translocation
Kavita Reddy
Genzyme Genetics, NY 10019, USA
Leuk Lymphoma 49:740-50. 2008
..The diagnosis was blastic MCL with Burkitt features. These cases, along with the reported cases, distinguish an aggressive category of a blastic MCL with a poor prognosis that probably requires Burkitt therapy...
Double minutes (dmin) and homogeneously staining regions (hsr) in myeloid disorders: a new case suggesting that dmin form hsr in vivoK S Reddy
Genzyme Genetics, New York, NY 10019, USA
Cytogenet Genome Res 119:53-9. 2007
..Chronologically, the MYC-positive dmin appeared first, followed by the appearance of MYC-positive marker chromosomes, suggesting that the dmin may have evolved to form homogeneously staining regions (hsr) in vivo...
- Burkitt t(8;14)(q24;q32) and cryptic deletion in a CLL patient: report of a case and review of literature
Kavita Reddy
US Labs, 2601 Campus Drive, Irvine, CA 92612, USA
Cancer Genet Cytogenet 166:12-21. 2006
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- Chronic lymphocytic leukaemia profiled for prognosis using a fluorescence in situ hybridisation panel
K S Reddy
US Labs, Irvine, CA 92612, USA
Br J Haematol 132:705-22. 2006
..The FISH panel could also serve to monitor 13q deletion for secondary changes with adverse prognosis. Understanding prognosis in specific types of 13q deletion would enhance outcome prediction...
- Oligoarray (105K) CGH analysis of chromosome microdeletions within 10q22.1q24.32
K S Reddy
Genetics Department, Kaiser Permanente of Southern California, 4580 Electronics Place, Los Angeles, CA 90039, USA
Cytogenet Genome Res 132:113-20. 2011
..We have described the phenotype specific to the chromosome region involved within 10q22.1-q24.32. The oligoarray analysis improved the clinical management of the patients and enabled counseling for deleted genes...
Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum DisorderKavita S Reddy
Genzyme Genetics, Orange CA 92868, USA
BMC Med Genet 6:3. 2005
..Ninety percent have idiopathic autism and a major gene has not yet been identified. We have assessed the incidence of chromosome abnormalities and Fragile X syndrome in a population of autistic patients referred to our laboratory...
- The conundrum of a jumping translocation (JT) in CVS from twins and review of JTs
Kavita S Reddy
Kaiser Permanente Southern California, 4580 ElectronicPlace, Los Angeles, CA 90039, USA
Am J Med Genet A 152:2924-36. 2010
..This case illustrates the diagnostic challenges posed by JTs.In this study, our knowledge on JTs is consolidated to improve identification, management, and counseling...
- Assessment of 1p/19q deletions by fluorescence in situ hybridization in gliomas
Kavita S Reddy
Genzyme Genetics, 521 West 57th Street, New York, NY 10025, USA
Cancer Genet Cytogenet 184:77-86. 2008
..Elucidated in this paper are the various FISH signal patterns observed in gliomas and a need for a uniform nomenclature for improved diagnosis...
Predicting adult metabolic syndrome from childhood body mass index: follow-up of the New Delhi birth cohortH P S Sachdev
Department of Paediatrics, Sitaram Bhartia Institute of Science and Research, New Delhi, India
Arch Dis Child 94:768-74. 2009
..To assess whether serial measurements of childhood body mass index (BMI) give clinically useful predictions of the risk of developing adult metabolic syndrome and impaired glucose tolerance or type 2 diabetes...
- Submicroscopic terminal deletion of 1p36.3 and Xp23 hidden in complex chromosome rearrangements: independent mechanism of telomere restitution on the two chromatids
Kavita S Reddy
Quest Diagnostics, Inc, San Juan Capistrano, California, USA
Am J Med Genet A 117:261-7. 2003
..Our findings suggest that subtelomeric deletions should be ruled out in cases with complex and simple rearrangements involving the terminal regions...
- Two cases assessed for myeloid disorders had an unexpected twist
Kavita S Reddy
Cancer Genet Cytogenet 181:138-40. 2008
- Translocation (X;20)(q13;q13.3): a nonrandom abnormality in four patients with myeloid disorders
Kavita S Reddy
Genzyme Genetics, Orange, CA, USA
Cancer Genet Cytogenet 157:70-3. 2005
..Previous FISH studies showed that the breakpoint on the X is proximal to XIST. In one of our cases, the breakpoint on the X was shown to be proximal to Xq12, by FISH using a probe for the androgen receptor gene locus...
- SKY assessment of two karyotypes with 0-6 supernumerary marker/ring chromosomes and review of previously reported cases with two or more markers
Kavita S Reddy
Department of Cytogenetics, Quest Diagnostics, Inc, San Juan Capistrano, California, USA
Am J Med Genet A 118:156-71. 2003
..While two bisatellited markers may be associated with infertility, the phenotype in other cases ranged from borderline intelligence and mild dysmorphism to developmental delay, mental retardation, and congenital abnormalities...
- Prenatal management of mosaic tetrasomy 5p
Kavita S Reddy
Prenat Diagn 23:82-5. 2003
