Genomes and Genes
Sarah T South
Affiliation: ARUP Institute for Clinical and Experimental Pathology
- Large clinically consequential imbalances detected at the breakpoints of apparently balanced and inherited chromosome rearrangementsSarah T South
Institute for Clinical and Experimental Pathology, University of Utah, Salt Lake City, Utah, USA
J Mol Diagn 12:725-9. 2010....
- Chromosomal structural rearrangements: detection and elucidation of mechanisms using cytogenomic technologiesSarah T South
Cytogenetics, Genomic Microarray, Genetic Processing at ARUP Laboratories, 500 Chipeta Way, Salt Lake City, UT 84108, USA
Clin Lab Med 31:513-24, vii. 2011....
- Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3Sarah T South
ARUP Laboratories, Salt Lake City, UT 84108, USA
Am J Med Genet C Semin Med Genet 148:270-4. 2008....
- Genomic medicine in prenatal diagnosisSarah T South
Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA
Clin Obstet Gynecol 51:62-73. 2008....
- Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotypeSarah T South
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA
Am J Med Genet A 146:2691-7. 2008....
- Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocationsSarah T South
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA
Eur J Hum Genet 16:45-52. 2008..Analysis of clinical manifestations of each patient also revealed that patients with an unbalanced translocation often presented with exceptions to some expected phenotypes...
- Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genesSteven B Bleyl
Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84132
Am J Med Genet A 143:2785-95. 2007..Analysis of the Xq27.1 breakpoint localized it to a 90 kb interval 3' of the SOX3 gene, supporting a novel role of SOX3 misexpression in the development of Peters anomaly of the eye...
- Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: implications for critical region designationSarah T South
Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah 84132 2117, USA
Am J Med Genet A 143:2137-42. 2007..These patients also emphasize the difficulty of mapping clinical manifestations common to many aneusomy syndromes...
- Molecular inversion probe array for the genetic evaluation of stillbirth using formalin-fixed, paraffin-embedded tissueLeslie R Rowe
Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT 84108 1221, USA
J Mol Diagn 15:466-72. 2013..This study highlights the benefits of using MIP array analysis for identification of genomic alterations in FFPE stillbirth autopsy tissue. ..
- Chromosomal loss of 3q26.3-3q26.32, involving a partial neuroligin 1 deletion, identified by genomic microarray in a child with microcephaly, seizure disorder, and severe intellectual disabilityAlison Millson
ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, Utah, USA
Am J Med Genet A 158:159-65. 2012..The same size deletion was subsequently found in her healthy, asymptomatic, adult mother...
- A new genomic mechanism leading to cri-du-chat syndromeSarah T South
Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah, USA
Am J Med Genet A 140:2714-20. 2006..This illustrates a new genomic mechanism of chromosome rearrangement leading to cri-du-chat syndrome and should provide significant information for the medical management of patients with other terminal deletion syndromes...
- Unknown partner for USP6 and unusual SS18 rearrangement detected by fluorescence in situ hybridization in a solid aneurysmal bone cystKatherine Geiersbach
ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA
Cancer Genet 204:195-202. 2011..In this case, the SS18 rearrangement by FISH resulted from a complex rearrangement of 18q11.2 with a deletion of the SS18 gene. The translocation partner for USP6 remains unknown in this case...
- Mosaic deletion of 20pter due to rescue by somatic recombinationMegan M Martin
Lineagen, Inc, Salt Lake City, Utah
Am J Med Genet A 170:243-8. 2016....
- Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndromeKaren S Ho
Lineagen, Inc, Salt Lake City, Utah, USA
J Med Genet 53:256-63. 2016..3 region. Seizures are frequently, but not always, associated with WHS. We hypothesised that the size and location of the deleted region may correlate with seizure presentation...
- ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013Sarah T South
1 ARUP Laboratories, Salt Lake City, Utah, USA 2 Department of Pathology, University of Utah, Salt Lake City, Utah, USA
Genet Med 15:901-9. 2013..To assist clinical laboratories in validation of microarray methodologies for constitutional applications, the American College of Medical Genetics and Genomics has produced the following revised professional standards and guidelines...
- Familial KANK1 deletion that does not follow expected imprinting patternRena J Vanzo
Lineagen, Inc, 423 Wakara Way, Ste 200, Salt Lake City, UT 84108, United States
Eur J Med Genet 56:256-9. 2013....
- Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardationAnnika M Svensson
Cytogenetics Laboratory, Department of Pediatrics, University of Utah, Salt Lake City, UT 84132 2117, USA
Am J Med Genet A 143:1348-53. 2007..The malformations in our patient may be caused by deletion of a regulatory element far upstream of the HOXD cluster...
- Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene clusterDavid A Stevenson
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA
Am J Med Genet A 143:1053-9. 2007..Based on the agreement of our findings with one previous case of mandibulofacial dysostosis with a 2q31.1 transocation, we hypothesize that misexpression of genes in the HOXD gene cluster produced the described phenotype in this patient...
- Two cases of Scimitar syndrome associated with multiple congenital skeletal anomalies and lacking abnormalities by genomic microarray analysisIsaac E Lloyd
1 Department of Pathology, University of Utah, 15 North Medical Drive East, Suite 1100, Salt Lake City, UT 84112, USA
Pediatr Dev Pathol 17:360-5. 2014..In light of these findings, we discuss the embryology and direct timing during development of the anomalies associated with this syndrome...
- Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiencyAlan F Rope
Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, 84112, USA
Am J Hum Genet 89:28-43. 2011..Here we provide evidence of a human genetic disorder resulting from direct impairment of N-terminal acetylation, one of the most common protein modifications in humans...
- Two Unrelated Burkitt Lymphomas Seven Years Apart in a Patient With X-Linked Lymphoproliferative Disease Type 1 (XLP1)Delu Zhou
From the Department of Pathology, University of Utah, Salt Lake City
Am J Clin Pathol 146:248-53. 2016....
- DNA copy number analysis of Grade II-III and Grade IV gliomas reveals differences in molecular ontogeny including chromothripsis associated with IDH mutation statusAdam Cohen
Huntsman Cancer Institute, University of Utah, 2000 Circle of Hope, Salt Lake City, UT, 84112, USA
Acta Neuropathol Commun 3:34. 2015..We analyzed copy number alterations (CNAs) across grades (Grade II-III and GBM) in both IDH (mut) and IDH (wt) infiltrating gliomas using molecular inversion probe arrays...
- Turner Syndrome in Girls Presenting with Coarctation of the AortaAaron Eckhauser
Section of Pediatric Cardiothoracic Surgery, Department of Surgery, University of Utah, Salt Lake City, UT Heart Center at Primary Children s Hospital, Intermountain Healthcare, Salt Lake City, UT Electronic address
J Pediatr 167:1062-6. 2015..To evaluate the frequency of Turner syndrome in a population-based, statewide cohort of girls with coarctation of the aorta...
- Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn SyndromeErica F Andersen
1 Cytogenetics Department, ARUP Laboratories, Salt Lake City, UT, USA 2 Department of Pathology, University of Utah, Salt Lake City, UT, USA
Eur J Hum Genet 22:464-70. 2014....
- Homozygous deletions of a copy number change detected by array CGH: a new cause for mental retardation?Cynthia J Curry
Genetic Medicine Central California, USA
Am J Med Genet A 146:1903-10. 2008..Such homozygous deletions should be viewed as potentially clinically relevant...
- Unexpected cytogenetic finding in acute lymphoblastic leukemia: a case of del(5q) with a cryptic t(12;21)Sarah T South
Cancer Genet Cytogenet 168:177-8. 2006
- A reciprocal translocation 46,XY,t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9Simeon A Boyadjiev
McKusick Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, 733 N Broadway, BRB 469, Baltimore, MD 21205, USA
Genomics 85:622-9. 2005....
- Prenatal detection of an interstitial deletion in 4p15 in a fetus with an increased nuchal skin fold measurementSarah T South
Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Fetal Diagn Ther 20:58-63. 2005..Only rarely is it associated with other types of chromosome abnormalities. We report the prenatal finding of an increased NF in a fetus with an interstitial 4p deletion...
- Reevaluating confined placental mosaicismGail Stetten
Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287 2501, USA
Am J Med Genet A 131:232-9. 2004....