L G Shaffer

Summary

Affiliation: Signature Genomic Laboratories
Country: USA

Publications

  1. pmc Application of array-based comparative genomic hybridization to clinical diagnostics
    Bassem A Bejjani
    Signature Genomic Laboratories, LLC, 44 W 6th Ave, Suite 202, Spokane, WA 99204, USA
    J Mol Diagn 8:528-33. 2006
  2. ncbi Array-based comparative genomic hybridization in clinical diagnosis
    Bassem A Bejjani
    Signature Genomic Laboratories, 44 West 6th Avenue, Suite 202, Spokane, WA 99204, USA
    Expert Rev Mol Diagn 5:421-9. 2005
  3. doi Williams syndrome in a preterm infant with phenotype of Alagille syndrome
    Prakesh S Shah
    Department of Pediatrics, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet A 146:2407-11. 2008
  4. ncbi Risk estimates for uniparental disomy following prenatal detection of a nonhomologous Robertsonian translocation
    Lisa G Shaffer
    Health Research and Education Center, Washington State University, Spokane, WA 99210 1495, USA
    Prenat Diagn 26:303-7. 2006
  5. ncbi Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases
    Lisa G Shaffer
    Signature Genomic Laboratories, LLC, Spokane, Washington, USA
    J Pediatr 149:98-102. 2006
  6. doi In the middle of it all: a centered approach to chromosome analysis
    Lisa G Shaffer
    Signature Genomic Laboratories, 120 N Pine St, Spokane, WA 99202, USA 1 509 474 6840 1 509 474 6839
    Expert Opin Med Diagn 2:221-9. 2008
  7. pmc Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report
    Roland Haj
    Signature Genomic Laboratories, Spokane, WA, USA
    Mol Cytogenet 2:2. 2009
  8. pmc Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report
    Ryan N Traylor
    Signature Genomic Laboratories, Spokane, WA, USA
    Mol Cytogenet 2:17. 2009
  9. pmc Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH
    Nicholas J Neill
    Signature Genomic Laboratories, Spokane, WA, USA
    Mol Cytogenet 3:11. 2010
  10. pmc Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region
    Yong hui Jiang
    Department of Molecular, Baylor College of Medicine, Houston, TX 77030, USA
    BMC Genomics 9:50. 2008

Detail Information

Publications93

  1. pmc Application of array-based comparative genomic hybridization to clinical diagnostics
    Bassem A Bejjani
    Signature Genomic Laboratories, LLC, 44 W 6th Ave, Suite 202, Spokane, WA 99204, USA
    J Mol Diagn 8:528-33. 2006
    ..This new platform is poised to revolutionize modern cytogenetic diagnostics and to provide clinicians with a powerful tool to use in their increasingly sophisticated diagnostic capabilities...
  2. ncbi Array-based comparative genomic hybridization in clinical diagnosis
    Bassem A Bejjani
    Signature Genomic Laboratories, 44 West 6th Avenue, Suite 202, Spokane, WA 99204, USA
    Expert Rev Mol Diagn 5:421-9. 2005
    ....
  3. doi Williams syndrome in a preterm infant with phenotype of Alagille syndrome
    Prakesh S Shah
    Department of Pediatrics, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet A 146:2407-11. 2008
    ..This case illustrates the importance of microarray analysis in diagnosing genetic conditions, especially in preterm babies whose facial and other clinical manifestations have not fully developed...
  4. ncbi Risk estimates for uniparental disomy following prenatal detection of a nonhomologous Robertsonian translocation
    Lisa G Shaffer
    Health Research and Education Center, Washington State University, Spokane, WA 99210 1495, USA
    Prenat Diagn 26:303-7. 2006
    ..However, these collective data have provided the opportunity to derive an overall risk estimate for UPD in the fetus after the prenatal identification of a ROB...
  5. ncbi Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases
    Lisa G Shaffer
    Signature Genomic Laboratories, LLC, Spokane, Washington, USA
    J Pediatr 149:98-102. 2006
    ..To assess the yield of array-based comparative genomic hybridization...
  6. doi In the middle of it all: a centered approach to chromosome analysis
    Lisa G Shaffer
    Signature Genomic Laboratories, 120 N Pine St, Spokane, WA 99202, USA 1 509 474 6840 1 509 474 6839
    Expert Opin Med Diagn 2:221-9. 2008
    ..Results/discussion: The MarkerChip demonstrates the utility of constructing a microarray for the analysis of chromosome abnormalities with coverage concentrated on areas of the genome particularly susceptible to rearrangement...
  7. pmc Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report
    Roland Haj
    Signature Genomic Laboratories, Spokane, WA, USA
    Mol Cytogenet 2:2. 2009
    ..Although most CCRs appear balanced at the level of the light microscope, many demonstrate cryptic, submicroscopic imbalances at the translocation breakpoints...
  8. pmc Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report
    Ryan N Traylor
    Signature Genomic Laboratories, Spokane, WA, USA
    Mol Cytogenet 2:17. 2009
    ..Reported 6q deletion patients show a high incidence of mental retardation, ear anomalies, hypotonia, and postnatal growth retardation...
  9. pmc Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH
    Nicholas J Neill
    Signature Genomic Laboratories, Spokane, WA, USA
    Mol Cytogenet 3:11. 2010
    ....
  10. pmc Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region
    Yong hui Jiang
    Department of Molecular, Baylor College of Medicine, Houston, TX 77030, USA
    BMC Genomics 9:50. 2008
    ..Taking advantage of the human genome sequence, we have performed extensive sequence analysis and molecular studies for the PWS candidate region...
  11. doi Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens
    Lisa G Shaffer
    Signature Genomic Laboratories, Spokane, WA 99202, USA
    Prenat Diagn 28:789-95. 2008
    ..To compare the detection rate by microarray analysis for chromosome abnormalities in a prenatal population to that of a neonatal population referred for diagnostic testing...
  12. pmc Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
    Blake C Ballif
    Signature Genomic Laboratories, LLC, Spokane, WA, USA
    Mol Cytogenet 1:8. 2008
    ..6 Mb common-sized deletion. Given the molecular mechanism causing the deletion, the reciprocal duplication is anticipated to occur with equal frequency, although only one family with this duplication has been reported...
  13. ncbi The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future
    Lisa G Shaffer
    Signature Genomic Laboratories, LLC, 120 N Pine Street, Ste 242C, Spokane, WA 99202, USA
    Am J Med Genet C Semin Med Genet 145:335-45. 2007
    ..c) 2007 Wiley-Liss, Inc...
  14. ncbi Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis
    Lisa G Shaffer
    Signature Genomic Laboratories, Spokane, WA 99202, USA
    Am J Med Genet C Semin Med Genet 145:87-98. 2007
    ..The benefits and limitations of each technology will be discussed in the context of prenatal diagnosis...
  15. ncbi Medical applications of array CGH and the transformation of clinical cytogenetics
    L G Shaffer
    Signature Genomic Laboratories, LLC, Spokane, WA 99204, USA
    Cytogenet Genome Res 115:303-9. 2006
    ....
  16. ncbi The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome
    Lisa G Shaffer
    Health Research and Education Center, Washington State University, Spokane, Washington, USA
    Genet Med 9:607-16. 2007
    ..We report as an illustrative example the characterization of a novel microdeletion syndrome of 1q41q42...
  17. pmc Assessing karyotype precision by microarray-based comparative genomic hybridization in the myelodysplastic/myeloproliferative syndromes
    Marilyn L Slovak
    Signature Genomics, Spokane, WA, USA
    Mol Cytogenet 3:23. 2010
    ....
  18. doi Development of new postnatal diagnostic methods for chromosome disorders
    Lisa G Shaffer
    Signature Genomic Laboratories, Spokane, WA 99207, USA
    Semin Fetal Neonatal Med 16:114-8. 2011
    ....
  19. doi Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems
    Trilochan Sahoo
    Signature Genomic Laboratories, 2820 N Astor St, Spokane, WA 99207, USA
    Genet Med 13:868-80. 2011
    ....
  20. doi Clinical and molecular cytogenetic characterization of four patients with unbalanced translocation der(1)t(1;22)(p36;q13)
    Marzena Gajecka
    School of Molecular Biosciences, Washington State University, Spokane, Washington, USA
    Am J Med Genet A 146:2777-84. 2008
    ..One balanced translocation carrier parent had disruption of the period homolog 3 (PER3) gene and reported sleep disturbances. Overall, patients tended to have more features consistent with deletion of 1p36 than duplication of 22q...
  21. doi Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2
    B C Ballif
    Signature Genomic Laboratories, LLC, Spokane, WA 99207, USA
    Clin Genet 74:469-75. 2008
    ..1q12.2 is a rare, emerging syndrome. These results illustrate that aCGH is particularly suited to identify rare chromosome abnormalities in patients with apparently non-syndromic idiopathic mental retardation and birth defects...
  22. ncbi Characterization of a complex rearrangement with interstitial deletions and inversion on human chromosome 1
    Marzena Gajecka
    Health Research and Education Center, Washington State University, Box 1495, Spokane, WA, USA
    Chromosome Res 14:277-82. 2006
    ..The discovery of cryptic events in seemingly simple chromosome rearrangements may provide the basis for proposing mechanisms of formation...
  23. doi Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions
    Jill A Rosenfeld
    Signature Genomic Laboratories, Spokane, Washington, USA
    Am J Med Genet A 152:1951-9. 2010
    ..Characterization of small deletions is important for narrowing critical intervals and for the identification of causative or candidate genes for features of monosomy 1p36 syndrome...
  24. ncbi Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2
    Blake C Ballif
    Signature Genomic Laboratories, Spokane, Washington 99202, USA
    Nat Genet 39:1071-3. 2007
    ..2-p12.2 constitute a previously undescribed syndrome...
  25. doi Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray
    Justine Coppinger
    Signature Genomic Laboratories, Spokane, WA, USA
    Prenat Diagn 29:1156-66. 2009
    ..To determine the detection rates of whole-genome microarray technology compared to targeted microarray analysis for chromosome abnormalities in prenatal samples submitted for diagnostic testing...
  26. ncbi Comparative genomic hybridization by microarray for the detection of cytogenetic imbalance
    Malgorzata Jarmuz
    Health Research and Education Center, Washington State University, Spokane, WA, USA
    Methods Mol Med 128:23-31. 2006
    ..Properly constructed, microarrays have the potential to be a valuable tool for the detection of chromosomal abnormalities in cancer and genetic disease...
  27. doi Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH
    Sara Anne Adams
    Signature Genomic Laboratories, LLC, Spokane, Washington, USA
    Genet Med 11:314-22. 2009
    ..In these cases, diagnosis before the manifestation of the patient's full phenotype dramatically impacts genetic counseling, clinical management, and eventual prognosis and survivability...
  28. doi aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy
    Aaron Theisen
    Signature Genomic Laboratories, Spokane, Washington 99207, USA
    Am J Med Genet A 149:914-8. 2009
    ....
  29. pmc A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk
    Francesca Antonacci
    Department of Genome Sciences, University of Washington, Seattle, Washington, USA
    Nat Genet 42:745-50. 2010
    ..Notably, we show that the S2 configuration harbors directly oriented duplications, specifically predisposing this chromosome to disease-associated rearrangement...
  30. pmc A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33
    Ryan N Traylor
    Signature Genomic Laboratories, Spokane, Washington, United States of America
    PLoS ONE 5:e12462. 2010
    ....
  31. ncbi Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization
    Blake C Ballif
    Signature Genomic Laboratories, LLC, Spokane, WA 99204, USA
    Prenat Diagn 26:333-9. 2006
    ..However, array CGH, like all CGH procedures, has heretofore been deemed unable to detect ploidy, a major cause of fetal demise and spontaneous miscarriage...
  32. ncbi Detection of low-level mosaicism by array CGH in routine diagnostic specimens
    Blake C Ballif
    Signature Genomic Laboratories, LLC, Spokane, Washington, USA
    Am J Med Genet A 140:2757-67. 2006
    ..Thus, array CGH, which is based on genomic DNA extracted directly from uncultured peripheral blood, may be more likely to detect low-level mosaicism for unbalanced chromosome abnormalities than traditional cytogenetic techniques...
  33. pmc Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region
    Justine Coppinger
    Signature Genomic Laboratories, LLC, Spokane, WA 99207, USA
    Hum Mol Genet 18:1377-83. 2009
    ..The variable phenotypes and preponderance of familial cases obfuscate the clinical relevance of the molecular data and emphasize the need for careful parental assessments and clinical correlations...
  34. doi The use of microarray technology for cytogenetics
    Bassem A Bejjani
    Signature Genomic Laboratories, Spokane, WA, USA
    Methods Mol Biol 632:125-39. 2010
    ..Cytogeneticists are uniquely positioned to understand these mechanisms and assist genetic counselors and clinicians in their daily interactions with patients and families...
  35. ncbi The clinical utility of enhanced subtelomeric coverage in array CGH
    Blake C Ballif
    Signature Genomic Laboratories, LLC, Spokane, Washington 99202, USA
    Am J Med Genet A 143:1850-7. 2007
    ..Microarrays designed to investigate regions known to be involved in chromosome abnormalities will enhance the detection of cytogenetic abnormalities at unprecedented resolution and frequency...
  36. pmc Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities
    Blake C Ballif
    Signature Genomic Laboratories, Spokane, WA 99207, USA
    Am J Hum Genet 86:454-61. 2010
    ....
  37. ncbi Clinical utility of contemporary molecular cytogenetics
    Bassem A Bejjani
    Signature Genomic Laboratories, LLC, Spokane, Washington 99202, USA
    Annu Rev Genomics Hum Genet 9:71-86. 2008
    ..Newer methodologies are being developed, which will likely lead to a new understanding of the genome and its relationship to health and disease...
  38. ncbi Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?
    Bassem A Bejjani
    Signature Genomic Laboratories, LLC, Spokane, WA 99204, USA
    Am J Med Genet A 134:259-67. 2005
    ....
  39. doi Prenatal diagnosis using array CGH
    Catherine D Kashork
    Signature Genomics Laboratories, LLC, Spokane, WA, USA
    Methods Mol Biol 444:59-69. 2008
    ..The procedure is reproducible in a clinical setting and provides reliable results in a short period (approximately 5 days). Thus, depending on the array used, array CGH may develop into an excellent tool for prenatal diagnosis...
  40. ncbi Identification of cryptic imbalance in phenotypically normal and abnormal translocation carriers
    Marzena Gajecka
    Health Research and Education Center, Washington State University Spokane, Spokane, WA 99210, USA
    Eur J Hum Genet 14:1255-62. 2006
    ....
  41. ncbi Cytogenetic analysis of cardiovascular disease: karyotyping
    Malgorzata Jarmuz
    Health Research and Education Center, Washington State University, Spokane, WA, USA
    Methods Mol Med 128:1-9. 2006
    ..In this chapter, we describe the basic approach of cytogenetic analysis: arresting the cell in metaphase or prometaphase, the obtaining of metaphase chromosome spreads, and staining and chromosome analysis...
  42. pmc A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
    Santhosh Girirajan
    Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA
    Nat Genet 42:203-9. 2010
    ..Analysis of other microdeletions with variable expressivity indicates that this two-hit model might be more generally applicable to neuropsychiatric disease...
  43. ncbi Microarray analysis for constitutional cytogenetic abnormalities
    Lisa G Shaffer
    Signature Genomic Laboratories, Spokane, Washington, USA
    Genet Med 9:654-62. 2007
  44. doi Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories
    Karen D Tsuchiya
    Department of Laboratories, Seattle Children s Hospital, Seattle, Washington, USA
    Genet Med 11:866-73. 2009
    ..The purpose of this study was to assess the variability in interpretation and reporting of copy number changes that are detected by array-based technology in the clinical laboratory...
  45. ncbi A cytogeneticist's perspective on genomic microarrays
    Lisa G Shaffer
    Health Research and Education Center, Washington State University Spokane, Sacred Heart Medical Center, and Signature Genomic Laboratories, Spokane, Washington, USA
    Hum Reprod Update 10:221-6. 2004
    ..We anticipate that array CGH will be employed in the clinical cytogenetics laboratory in the near future and will lead to the identification of the chromosomal basis of new syndromes and existing genetic conditions...
  46. pmc Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome
    Jill A Rosenfeld
    Signature Genomic Laboratories LLC, Spokane, WA, USA
    PLoS ONE 4:e6568. 2009
    ..Our results suggest that deletion of SATB2 is responsible for several of the clinical features associated with 2q32q33 microdeletion syndrome...
  47. ncbi Rearrangements of chromosome 18 illustrate the utility of array-based comparative genomic hybridization
    C D Kashork
    Signature Genomic Laboratories, Spokane, WA, USA
    Cytogenet Genome Res 114:379-83. 2006
    ..Nine cases of aberrations involving chromosome 18 are used to illustrate the use and clinical potential of array CGH...
  48. ncbi Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure
    Marzena Gajecka
    Health Research and Education Center, Washington State University, Spokane, WA 99210, USA
    Eur J Hum Genet 13:139-49. 2005
    ..These data emphasize the important role of cytogenetics in investigating and uncovering the etiologies of human genetic disease, particularly cytogenetic imbalances that reveal potentially dosage-sensitive genes...
  49. pmc The Evolution of satellite III DNA subfamilies among primates
    Malgorzata Jarmuz
    Health Research and Education Center, Washington State University, Spokane 99210, USA
    Am J Hum Genet 80:495-501. 2007
    ..Our results show that each SatIII subfamily is an independent evolutionary unit, that the rate of evolution is not uniform between species, and that the evolution within a species is not uniform between chromosomes...
  50. pmc American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation
    Lisa G Shaffer
    Health Research and Education Center, Washington State University Spokane, WA, USA
    Genet Med 7:650-4. 2005
    ..It may be prudent, however, to document in the patient's record the rationale for any significant deviation from this guideline...
  51. doi Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations
    Jill A Rosenfeld
    Signature Genomic Laboratories, 2820 N AstorStreet, Spokane, WA 99207, USA
    Genet Med 11:797-805. 2009
    ..Previous reports have suggested that the Pitt-Hopkins syndrome phenotype is independent of mutation or deletion type...
  52. ncbi Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH
    Blake C Ballif
    Signature Genomic Laboratories, LLC, Spokane, Washington 99210 1495, USA
    Genet Med 9:150-62. 2007
    ....
  53. pmc Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13)
    Marzena Gajecka
    School of Molecular Biosciences, Washington State University, Spokane, Washington 99202, USA
    Genome Res 18:1733-42. 2008
    ..Possible detailed nonhomologous end-joining scenarios for t(1;22) cases are presented. We propose that cryptic imbalances in phenotypically normal, balanced translocation carriers may be more common than currently appreciated...
  54. ncbi Identification of sequence motifs at the breakpoint junctions in three t(1;9)(p36.3;q34) and delineation of mechanisms involved in generating balanced translocations
    Marzena Gajecka
    Health Research and Education Center, Washington State University Spokane, Spokane, WA, 99210 1495, USA
    Hum Genet 120:519-26. 2006
    ..We propose a model for balanced translocation formation in humans similar to transposition in bacteria, in which staggered nicks are repaired resulting in duplications and insertions at the translocation breakpoints...
  55. pmc Effects of ozone exposure during microarray posthybridization washes and scanning
    Steve Byerly
    Signature Genomic Laboratories, 2820 N Astor St, Spokane, WA 99207, USA
    J Mol Diagn 11:590-7. 2009
    ..We also found that washed microarrays produce the best results when immediately scanned; however, if a low-ozone environment is maintained, there will be little compromise in the data collected...
  56. ncbi Familial complex chromosomal rearrangement resulting in a recombinant chromosome
    Sue Ann Berend
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Am J Med Genet 109:311-7. 2002
    ..The mother's karyotype included an inverted chromosome 2 and multiple translocations involving chromosomes 3, 5, 8, and 16. No evidence of deletion or duplication that could account for the clinical findings in the child was identified...
  57. pmc Human chromosome 7: DNA sequence and biology
    Stephen W Scherer
    Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8
    Science 300:767-72. 2003
    ..This approach enabled the discovery of candidate genes for developmental diseases including autism...
  58. pmc Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome
    Heidi A Heilstedt
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Am J Hum Genet 72:1200-12. 2003
    ..Our clinical findings allow for the more accurate recognition of the syndrome and for proper medical evaluation...
  59. pmc Obligate short-arm exchange in de novo Robertsonian translocation formation influences placement of crossovers in chromosome 21 nondisjunction
    Sue Ann Berend
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Am J Hum Genet 72:488-95. 2003
    ..Additionally, we have demonstrated that events that occur in meiosis I can influence events, such as chromatid segregation in meiosis II, many decades later...
  60. ncbi Mosaicism in a patient with Down syndrome reveals post-fertilization formation of a Robertsonian translocation and isochromosome
    Ruma Bandyopadhyay
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 116:159-63. 2003
    ..The mechanism proposed for the formation of the rob(14q21q) in this case is different from that for most de novo rob(14q21q), but similar to a previously reported mosaic case of Down syndrome...
  61. ncbi Fluorescence in situ hybridization (FISH) for identifying the genomic rearrangements associated with three myelinopathies. Charcot-Marie-Tooth disease, hereditary neuropathy with liability to pressure palsies, and Pelizaeus-Merzbacher disease
    Mansoor S Mohammed
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Methods Mol Biol 217:219-38. 2003
  62. ncbi Identification of uniparental disomy in phenotypically abnormal carriers of isochromosomes or Robertsonian translocations
    Sue Ann Berend
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet 111:362-5. 2002
    ..Our results and the large number of case reports in the literature suggest that patients with abnormal phenotypes and acrocentric rearrangements of chromosomes 14 or 15 should be tested for UPD...
  63. ncbi Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- mice
    Clemencia Colmenares
    Department of Cancer Biology, Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA
    Nat Genet 30:106-9. 2002
    ..3 and is deleted in all of the individuals tested so far who have this syndrome. Thus, SKI may contribute to some of the phenotypes common in 1p36 deletion syndrome, and particularly to facial clefting...
  64. ncbi ATR-16 due to a de novo complex rearrangement of chromosome 16
    Marta S Gallego
    Laboratorio de Citogenetica, Servicio de Genetica, Hospital de Pediatría Professor Dr Juan P Garrahan, Buenos Aires, Argentina
    Hemoglobin 29:141-50. 2005
    ..The stellate pattern of the iris, a new finding in our patient, may contribute to a better clinical delineation of both syndromes, ATR-16 and/or duplication of 16qter...
  65. ncbi Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation
    Andre Megarbane
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon, France
    Am J Med Genet 108:69-74. 2002
    ..The phenotype of the twins is most likely related to this cryptic chromosomal rearrangement. The fact that the phenotype in this family partially overlaps with some previously reported phenotypes is discussed...
  66. ncbi The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangements
    Kathryn D McGowan
    Radiology Associates Greystone, Providence, RI, USA
    Prenat Diagn 22:141-3. 2002
    ..The present case, in addition to other reported cases of UPD involving balanced acrocentric rearrangements, supports testing for UPD in prenatally detected Robertsonian translocations and isochromosomes...
  67. pmc Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse
    Weimin Bi
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genome Res 12:713-28. 2002
    ..Our findings will facilitate both the identification of gene(s) responsible for the SMS phenotype and the engineering of an SMS mouse model...
  68. ncbi A case of segmental paternal isodisomy of chromosome 14
    Karen J Coveler
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room S801, Houston, TX 77030, USA
    Hum Genet 110:251-6. 2002
    ....
  69. ncbi Robertsonian translocations: mechanisms of formation, aneuploidy, and uniparental disomy and diagnostic considerations
    Sung Ryul Kim
    Department of Clinical Pathology, Ulsan University Hospital, Ulsan, Korea
    Genet Test 6:163-8. 2002
    ..Additionally, infants or children with congenital anomalies who carry a ROB should also be considered for UPD testing...
  70. ncbi Subtelomeric FISH uncovers trisomy 14q32: lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms
    V Reid Sutton
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet 112:23-7. 2002
    ....
  71. ncbi Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes
    Elizabeth Spiteri
    Department of Molecular Genetics, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA
    Hum Mol Genet 12:1823-37. 2003
    ..2 and telomeric bands. We hypothesize that these regions are more susceptible to breakage and repair, resulting in translocations...
  72. pmc Microduplication and triplication of 22q11.2: a highly variable syndrome
    Twila M Yobb
    Department of Biological Sciences, University of Alberta, Edmonton, Canada
    Am J Hum Genet 76:865-76. 2005
    ..2 microduplication. We strongly recommend that other family members of patients with 22q11.2 microduplications also be tested, since we found several phenotypically normal parents who were carriers of the chromosomal abnormality...
  73. ncbi Microarray detection of a de novo der(X)t(X;11)(q28;p13) in a girl with premature ovarian failure and features of Beckwith-Wiedemann syndrome
    Jin Yeong Han
    Department of Laboratory Medicine, Dong A University College of Medicine, 1, 3 Ga, Seo Gu, Busan, 602 715 Korea
    J Hum Genet 51:641-3. 2006
    ..5, which contributed to some of her features consistent with Beckwith-Wiedemann syndrome (BWS). The combined phenotype of BWS and POF suggests that the translocated portion of 11p remains active...
  74. ncbi Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndrome
    Louise Chuang
    Department of Obstetrics and Gynecology, National Cheng Kung University Medical College and Hospital, 138 Victory Road, Tainan, Taiwan, Republic of China
    Am J Med Genet A 133:180-3. 2005
    ..12p11.2-is a newly reported site of constitutional neocentromere formation. This is also the first report describing deletion of 11p11.12-p11.2 and neocentromere formation resulting in inherited Potocki-Shaffer syndrome...
  75. ncbi Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene
    Hagit Baris
    Division of Genetics, Children s Hospital Boston and Harvard Medical School, Boston, Massachusetts 02115, USA
    Am J Med Genet A 140:1876-9. 2006
  76. ncbi Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7)(p11.2 p14) involving the GLI3 and ZNFN1A1 genes
    Roberto Mendoza-Londono
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Genes Chromosomes Cancer 42:82-6. 2005
    ..To our knowledge, this is the first report of a patient with GCPS and leukemia. We hypothesize that constitutional deletion of the ZNFN1A1 gene in this patient may have resulted in an increased risk of lymphoid malignancy...
  77. ncbi A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A
    Yong hui Jiang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 131:1-10. 2004
    ..A mixed epigenetic and genetic and mixed de novo and inherited (MEGDI) model could be relevant to other "complex disease traits"...
  78. ncbi New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria
    Philip F Giampietro
    Department of Medical Genetic Services, Marshfield Clinic, Marshfield, Wisconsin, USA
    Am J Med Genet A 124:202-8. 2004
    ..While significant overlap exists between all four of the syndromes discussed, we believe that the constellation of anomalies observed in this girl most likely comprises a newly recognized syndrome...
  79. ncbi Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements
    Blake C Ballif
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Genet 114:198-206. 2004
    ..Alternative models are also discussed...
  80. ncbi Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome
    Keiko Wakui
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Eur J Hum Genet 13:528-40. 2005
    ..6-46.7 Mb from the 11p terminus...
  81. pmc Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2
    William B Dobyns
    Department of Human Genetics, The University of Chicago, Chicago, Illinois 60637, USA
    Am J Med Genet A 146:1637-54. 2008
    ..Most and possibly all of these loci demonstrate incomplete penetrance and variable expressivity. We anticipate that these data will serve as the basis for ongoing efforts to identify the causal genes located in these regions...
  82. ncbi Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions
    Wei Yu
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Hum Mol Genet 12:2145-52. 2003
    ..We anticipate that array CGH will change the diagnostic approach to many congenital and acquired genetic diseases such as mental retardation, birth defects and cancer...
  83. pmc Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution
    Melanie Babcock
    Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, New York 10461, USA
    Genome Res 13:2519-32. 2003
    ..Such sites may represent focal points for recombination. Thus, genome shuffling by Alu-mediated rearrangements has contributed to genome architecture during primate evolution...
  84. ncbi Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions
    Blake C Ballif
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 12:2153-65. 2003
    ....
  85. ncbi Characterization of complex chromosome aberrations in a recurrent meningioma combining standard cytogenetic and array comparative genomic hybridization techniques
    Kwang Sook Woo
    Department of Laboratory Medicine, Dong A University College of Medicine, 1, 3 Ga, Dongdaesin Dong, Seo Gu, Busan, 602 715, Korea
    Cancer Genet Cytogenet 180:56-9. 2008
    ..Array CGH corroborated the cytogenetic findings. The presence of a complex cytogenetic profile and progression-associated chromosomal abnormalities in a benign meningioma suggests the existence of underlying molecular events...
  86. ncbi Monosomy 1p36 deletion syndrome
    Marzena Gajecka
    Department of Health Research and Education at Washington State University in Spokane, 99210 1495, USA
    Am J Med Genet C Semin Med Genet 145:346-56. 2007
    ..In addition, based upon molecular characterization of subjects with monosomy 1p36, several mechanisms for the generation and stabilization of terminal deletions have been proposed...
  87. ncbi Low or absent unconjugated estriol in pregnancy: an indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysis
    Catherine D Kashork
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Prenat Diagn 22:1028-32. 2002
    ..Postnatal FISH confirmation of the STS deletion was performed in 1/7 cases. Clinical follow-up was available for 4/9 cases following birth...
  88. ncbi Re: Familial cryptic translocation (2;17) ascertained through recurrent spontaneous abortions: Bruyere H, Rajcan-Separovic E, Doyle J, Pantzar T, Langlois S
    Carlos A Bacino
    Am J Med Genet A 130:439-40. 2004
  89. pmc Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females
    Ken Inoue
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 71:838-53. 2002
    ..In one family, junction sequences revealed a complex recombination event. Our data suggest that PLP1 deletions are likely caused by nonhomologous end joining...
  90. ncbi Comments on editorial entitled "ISCN (2005) is not acceptable for describing clonal evolution in cancer"
    Lynda J Campbell
    Genes Chromosomes Cancer 46:514-5; author reply 516. 2007
  91. ncbi Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations
    Zhishuo Ou
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm T821, Houston, TX 77030, USA
    Hum Genet 120:227-37. 2006
    ..Our results support previous observations that the USP6 oncogene, LCRs, and repetitive DNA sequences play a significant role in the origin of constitutional chromosome aberrations and primate genome evolution...
  92. ncbi Under-ascertainment of mosaic carriers of balanced homologous acrocentric translocations and isochromosomes
    Natalia V Kovaleva
    Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 121:180-7. 2003
    ..However, given that mosaicism may be restricted to the gonads, prenatal testing is likely to be desired by the family whether or not mosaicism is found...
  93. pmc Parental origin and timing of de novo Robertsonian translocation formation
    Ruma Bandyopadhyay
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Am J Hum Genet 71:1456-62. 2002
    ..quot; Thus, we demonstrate that although both classes of ROBs occur predominantly during meiosis, the common, class 1 ROBs occur primarily during oogenesis and likely form through a mechanism distinct from that forming class 2 ROBs...