Chromosome Disorders

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  Subject Areas on Research

  • 46,XY/46,XY,21q- mosaicism in an infant with neutropenia and properdin deficiency. 
  • A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia. 
  • A further case of choanal atresia in the deletion (9p) syndrome. 
  • A role for maternal serum screening in detecting chromosomal abnormalities in fetuses with isolated choroid plexus cysts: a prospective multicentre study. 
  • An integrated physical map of 210 markers assigned to the short arm of human chromosome 11. 
  • Analysis of centromeric activity in Robertsonian translocations: implications for a functional acrocentric hierarchy. 
  • Breast cancer screening-individualized risk assessment and application of new research technology: non-protein bound estradiol and chromosome analysis. 
  • Cardiovascular malformations: changes in prevalence and birth status, 1972-1990. 
  • Catheter shunts for fetal hydronephrosis and hydrocephalus. Report of the International Fetal Surgery Registry. 
  • Characterization of chromosome 17 abnormalities in medulloblastomas. 
  • Characterization of de novo duplications in eight patients by using fluorescence in situ hybridization with chromosome-specific DNA libraries. 
  • Choanal atresia and associated anomalies. 
  • Choanal atresia in a patient with the deletion (9p) syndrome. 
  • Chromosomal characteristics of childhood brain tumors. 
  • Chromosomal composition of four permanent cultured cell lines derived from human gliomas. 
  • Chromosome end-to-end associations and telomerase activity during cancer progression in human cells after treatment with alpha-particles simulating radon progeny. 
  • Clinicopathologic and cytogenic features of CD34 (My 10)-positive acute nonlymphocytic leukemia. 
  • Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: a retrospective study of 60 patients and literature review. 
  • Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2. 
  • Correlation between selected environmental exposures and karyotype in acute myelocytic leukemia. 
  • Cytogenetic studies and their clinical correlates in adults with acute leukemia. 
  • Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. 
  • Familial segregation of hemangiomas and vascular malformations as an autosomal dominant trait. 
  • Familial tandem duplication of bands q31.1 to q32.3 on chromosome 4 with mild phenotypic effect. 
  • Fetal echocardiography and fetal cardiology: indications, diagnosis and management. 
  • Fractionated total-body irradiation and high-dose etoposide as a preparatory regimen for bone marrow transplantation for 94 patients with chronic myelogenous leukemia in chronic phase. 
  • Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures. 
  • Genetic studies in neural tube defects. NTD Collaborative Group. 
  • Hypodiploidy is associated with a poor prognosis in childhood acute lymphoblastic leukemia. 
  • Identification of a deletion in the adenosine deaminase gene in a child with severe combined immunodeficiency. 
  • Identification of genetic defect of an epilepsy: strategies for therapeutic advances. 
  • Impact of the increased adoption of prenatal cfDNA screening on non-profit patient advocacy organizations in the United States. 
  • Inherited duplication Xq27-qter at Xp22.3 in severely affected males: molecular cytogenetic evaluation and clinical description in three unrelated families. 
  • Late-onset hereditary axonal neuropathies. 
  • Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17. 
  • Loss of chromosomes 22 and 14 in the malignant progression of meningiomas. A comparative study of fluorescence in situ hybridization (FISH) and standard cytogenetic analysis. 
  • Management Considerations for Ongoing Pregnancies Complicated by Trisomy 13 and 18. 
  • Molecular and genetic characterization of a radiation-induced structural rearrangement in mouse chromosome 2 causing mutations at the limb deformity and agouti loci. 
  • Molecular cytogenetic analysis and clinical findings in a newborn with prenatally diagnosed rec(7)dup(7q)inv(7)(p22q31.3)pat. 
  • Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease. 
  • Mortality and morbidity of VLBW infants with trisomy 13 or trisomy 18. 
  • Mosaic trisomy 9 hematopoietic chimera. 
  • Mutants of the Drosophila ncd microtubule motor protein cause centrosomal and spindle pole defects in mitosis. 
  • Myotonic muscular dystrophy. 
  • Nondisjunction of chromosome 21: comparisons of cytogenetic and molecular studies of the meiotic stage and parent of origin. 
  • Partial duplication of 4q12q13 leads to a mild phenotype. 
  • Possible cellular and molecular mechanisms for asbestos carcinogenicity. 
  • Postnatal developmental delay and chromosomal abnormalities. 
  • Prenatal diagnosis of tetrasomy 9p. 
  • Prenatal diagnosis: essentials for the pediatric surgeon. 
  • Pseudohypophosphatasia. 
  • Refining The Society of Thoracic Surgeons Congenital Heart Surgery Database Mortality Risk Model With Enhanced Risk Adjustment for Chromosomal Abnormalities, Syndromes, and Noncardiac Congenital Anatomic Abnormalities. 
  • Report and abstracts of the sixth international workshop on human chromosome 1 mapping 2000. Iowa City, Iowa, USA. 30 September-3 October 2000. 
  • Report and abstracts of the third international workshop on human chromosome 1 mapping 1997. 
  • Report on the Fifth International Workshop on Chromosome 9 held at Eynsham, Oxfordshire, UK, September 4-6, 1996. 
  • Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations. 
  • Specific chromosomal abnormalities characterize four established cell lines derived from malignant human gliomas. 
  • Systematic gene mapping in man: data management considerations. 
  • The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs. 
  • The PML-RAR alpha fusion mRNA generated by the t(15;17) translocation in acute promyelocytic leukemia encodes a functionally altered RAR. 
  • The association of aneuploidy and unexplained elevated maternal serum alpha-fetoprotein. 
  • The case of the gray optic disc! 
  • The evolving picture of microdeletion/microduplication syndromes in the age of microarray analysis: variable expressivity and genomic complexity. 
  • Three probands with autistic disorder and isodicentric chromosome 15. 
  • Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome? 
  • Too much, too soon?: Commercial provision of noninvasive prenatal screening for subchromosomal abnormalities and beyond. 
  • Variability in expression of common fragile sites: in search of a new criterion. 
  • What are the required components of pre- and post-test counseling? 
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  Keywords of People

  • Sullivan, Beth Ann, Associate Professor of Molecular Genetics and Microbiology, Duke Science & Society