Chromosome Disorders

• 

  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. 
  • 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 16p13.11 Microdeletion Syndrome in a Newborn: A Case Study. 
  • 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 ocular defects associated with an abnormality of the human chromosome 1: trisomy 1q32-qter. 
  • 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. 
  • 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. 
  • 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. 
  • Mortality and morbidity of VLBW infants with trisomy 13 or trisomy 18. 
  • Mutants of the Drosophila ncd microtubule motor protein cause centrosomal and spindle pole defects in mitosis. 
  • Partial duplication of 4q12q13 leads to a mild phenotype. 
  • Possible cellular and molecular mechanisms for asbestos carcinogenicity. 
  • Prenatal diagnosis of tetrasomy 9p. 
  • Prenatal diagnosis: essentials for the pediatric surgeon. 
  • 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. 
  • Society for Maternal-Fetal Medicine Consult Series #57: Evaluation and management of isolated soft ultrasound markers for aneuploidy in the second trimester: (Replaces Consults #10, Single umbilical artery, October 2010; #16, Isolated echogenic bowel diagnosed on second-trimester ultrasound, August 2011; #17, Evaluation and management of isolated renal pelviectasis on second-trimester ultrasound, December 2011; #25, Isolated fetal choroid plexus cysts, April 2013; #27, Isolated echogenic intracardiac focus, August 2013). 
  • Specific chromosomal abnormalities characterize four established cell lines derived from malignant human gliomas. 
  • Systematic gene mapping in man: data management considerations. 
  • 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? 
  • What are the required components of pre- and post-test counseling? 
• 

  Keywords of People

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