Ewa Obersztyn

Summary

Affiliation: Instytut Matki i Dziecka
Country: Poland

Publications

  1. ncbi request reprint [Clinical expression of triploidy]
    Ewa Obersztyn
    Zaklad Genetyki Medycznej, Instytut Matki i Dziecka, Kasprzaka 17a, 01 211 Warszawa, Poland
    Med Wieku Rozwoj 6:329-36. 2002
  2. ncbi request reprint [Familial subtelomeric abnormality der(4)t(4p16.3;21q22.3) as a cause of mental retardation and mild dysmorphic features]
    Ewa Obersztyn
    Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul Kasprzaka 17a, 01 211 Warszawa, Poland
    Med Wieku Rozwoj 10:199-209. 2006
  3. ncbi request reprint Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients
    Joanna Pietrzak
    Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01 211 Warszawa, Poland
    J Appl Genet 48:167-75. 2007
  4. ncbi request reprint [Case of subtelomeric aberration as a cause of familial intellectual disability with congenital defects and dysmorphic features--problems of diagnosis and genetic counseling]
    Ewa Obersztyn
    Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul Kasprzaka 17a, 01 211 Warszawa, Poland
    Med Wieku Rozwoj 7:389-401. 2003
  5. ncbi request reprint [Balanced chromosomal rearrangements resulting in intellectual disability. An analysis of 22 cases with application of CGH and FISH methods]
    Katarzyna Borg
    Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul Kasprzaka 17a, 01 211 Warszawa
    Med Wieku Rozwoj 13:81-93. 2009
  6. ncbi request reprint [Cytogenetic-molecular analysis of balanced chromosomal rearrangements in nine patients with intellectual disability, dysmorphic features and congenital abnormalities]
    Katarzyna Borg
    Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul Kasprzaka 17a, 01 211 Warszawa, Poland
    Med Wieku Rozwoj 10:227-46. 2006
  7. ncbi request reprint [Characterization of marker chromosomes using molecular cytogenetic methods in patients with mental retardation and congenital malformations]
    Ewa Bocian
    Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul Kasprzaka 17a, 01 211 Warszawa, Poland
    Med Wieku Rozwoj 10:211-25. 2006
  8. ncbi request reprint [Subtelomeric aberration as a cause of severe somatic and psychomotor retardation in a child with dysmorphic features and CNS defects]
    Anna Kutkowska-Kazmierczak
    Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul Kasprzaka 17a, 01 211 Warszawa
    Med Wieku Rozwoj 8:949-62. 2004
  9. ncbi request reprint [Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues]
    Krzysztof Szczałuba
    Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul Kasprzaka 17a, Warszawa
    Med Wieku Rozwoj 15:437-44. 2011
  10. ncbi request reprint [Clinical symptoms and molecular pathogenesis of Noonan syndrome--current concepts]
    Jakub Klapecki
    Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul Kasprzaka 17a, 01 211 Warszawa, Poland
    Med Wieku Rozwoj 10:289-308. 2006

Collaborators

Detail Information

Publications27

  1. ncbi request reprint [Clinical expression of triploidy]
    Ewa Obersztyn
    Zaklad Genetyki Medycznej, Instytut Matki i Dziecka, Kasprzaka 17a, 01 211 Warszawa, Poland
    Med Wieku Rozwoj 6:329-36. 2002
    ..In one of them mixoploidy (lymphocytes/fibroblasts) was confirmed. In the second pure triploidy was identified in cultured lymphocytes. We discuss the clinical features in our patients and compare them with data from medical literature...
  2. ncbi request reprint [Familial subtelomeric abnormality der(4)t(4p16.3;21q22.3) as a cause of mental retardation and mild dysmorphic features]
    Ewa Obersztyn
    Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul Kasprzaka 17a, 01 211 Warszawa, Poland
    Med Wieku Rozwoj 10:199-209. 2006
    ..Clinical and pedigree data were analyzed and the phenotype -genotype correlation for partial monosomy 4p and trisomy 21q identified in the proband is also presented...
  3. ncbi request reprint Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients
    Joanna Pietrzak
    Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01 211 Warszawa, Poland
    J Appl Genet 48:167-75. 2007
    ..This study confirms the usefulness of multicolor FISH combined with whole-genome arrays for comprehensive analyses of marker chromosomes...
  4. ncbi request reprint [Case of subtelomeric aberration as a cause of familial intellectual disability with congenital defects and dysmorphic features--problems of diagnosis and genetic counseling]
    Ewa Obersztyn
    Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul Kasprzaka 17a, 01 211 Warszawa, Poland
    Med Wieku Rozwoj 7:389-401. 2003
    ..Detailed retrospective clinical characteristics of the proband and his affected relatives is presented. Variable clinical expression in presented cases in relation to difficulties in diagnosis and genetic counseling is discussed...
  5. ncbi request reprint [Balanced chromosomal rearrangements resulting in intellectual disability. An analysis of 22 cases with application of CGH and FISH methods]
    Katarzyna Borg
    Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul Kasprzaka 17a, 01 211 Warszawa
    Med Wieku Rozwoj 13:81-93. 2009
    ..The abnormal phenotype might be the result of genomic imbalance or aberrant expression caused by direct breakage of a dosage sensitive gene...
  6. ncbi request reprint [Cytogenetic-molecular analysis of balanced chromosomal rearrangements in nine patients with intellectual disability, dysmorphic features and congenital abnormalities]
    Katarzyna Borg
    Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul Kasprzaka 17a, 01 211 Warszawa, Poland
    Med Wieku Rozwoj 10:227-46. 2006
    ..In such cases, the detailed analysis of breakpoints of balanced chromosome rearrangements may help with identification of genes responsible for patient's clinical features...
  7. ncbi request reprint [Characterization of marker chromosomes using molecular cytogenetic methods in patients with mental retardation and congenital malformations]
    Ewa Bocian
    Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul Kasprzaka 17a, 01 211 Warszawa, Poland
    Med Wieku Rozwoj 10:211-25. 2006
    ..At present, molecular cytogenetic methods of chromosome analysis enable precise characterization of such abnormalities providing knowledge necessary for estimation of their genetic risk...
  8. ncbi request reprint [Subtelomeric aberration as a cause of severe somatic and psychomotor retardation in a child with dysmorphic features and CNS defects]
    Anna Kutkowska-Kazmierczak
    Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul Kasprzaka 17a, 01 211 Warszawa
    Med Wieku Rozwoj 8:949-62. 2004
    ..Detailed clinical characteristics of the proband as well as an attempt of a phenotype- genotype correlation of the identified chromosomal aberration were performed...
  9. ncbi request reprint [Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues]
    Krzysztof Szczałuba
    Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul Kasprzaka 17a, Warszawa
    Med Wieku Rozwoj 15:437-44. 2011
    ..In one of the brothers additional studies revealed the presence of de novo 1q21.1 microdeletion. ATR-X syndrome symptomatology, differential diagnostics issues as well as the aims of genetic counselling are described...
  10. ncbi request reprint [Clinical symptoms and molecular pathogenesis of Noonan syndrome--current concepts]
    Jakub Klapecki
    Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul Kasprzaka 17a, 01 211 Warszawa, Poland
    Med Wieku Rozwoj 10:289-308. 2006
    ..Less than half of the cases are familial. This paper presents current opinion on clinical symptoms, molecular pathogenesis and possibilities of growth hormone therapy. The genotype--phenotype correlation is also discussed...
  11. ncbi request reprint Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation
    Katarzyna Borg
    Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01 211, Warsaw, Poland
    Hum Genet 118:267-75. 2005
    ..Other potential genes responsible for intellectual deficiency disrupted as a result of patient's chromosomal rearrangement map at 12q14.1 (TAFA2), 12q23.1 (METAP2), and 11p14.1 (BDNF)...
  12. ncbi request reprint Recombination aneusomy of subtelomeric regions of chromosome 5, resulting from a large familial pericentric inversion inv(5)(p15.33q35.3)
    Ewa Bocian
    Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01 211 Warszawa, Poland
    J Appl Genet 46:109-14. 2005
    ..Our family shows that the large pericentric inversion with both breakpoints at subtelomeric regions of chromosome 5 is associated with a high risk of rec(5)dup(5q) in the progeny...
  13. ncbi request reprint [Variable clinical expression of familial Incontinentia Pigmenti syndrome - presentation of three cases]
    Anna Kutkowska-Kazmierczak
    Zakład Genetyki Medycznej Instytut Matki i Dziecka, ul Kasprzaka 17a, 01 211 Warszawa, Poland
    Med Wieku Rozwoj 12:748-53. 2008
    ..In the mother, expression of the disease was much milder, whereas in the grandmother lesions were restricted to the fingernails. Clinical characteristics and pedigree data are described...
  14. ncbi request reprint [Clinical manifestation of chromosome 2 long arm terminal deletion--presentation of four cases]
    Krzysztof Szczałuba
    Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul Kasprzaka 11a, 01 211 Warszawa, Poland
    Med Wieku Rozwoj 11:57-64. 2007
    ..A comparison was made of clinical symptoms present in our patients with relevant data concerning other cases of 2q monosomy, described in specialized publications...
  15. ncbi request reprint [Variability in clinical expression of Noonan syndrome--the report of two familial cases]
    Jakub Klapecki
    Zakładu Genetyki Medycznej, Instytutu Matki i Dziecka w Warszawie
    Wiad Lek 61:74-81. 2008
    ..We present two familial cases of Noonan syndrome with mutated PTPN11 gene in probands and one of their parents and siblings. We analyzed clinical features with regards to NS diagnostic criteria...
  16. ncbi request reprint [Prenatal diagnosis of Crouzon syndrome--actual diagnostic possibilities]
    Renata Jaczyńska
    Klinika Poloznictwa i Ginekologii Instytutu Matki i Dziecka w Warszawie
    Ginekol Pol 77:138-45. 2006
    ..The aim of the study is presentatoin Crouzon syndrom diagnosed prenatally by ultrasonography and confirmed moleculary by DNA analysis. We would like to stress the diagnostic problems and the difficult decisions that we encountered...
  17. ncbi request reprint A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH
    Beata Nowakowska
    Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
    Am J Med Genet A 143:1885-9. 2007
    ..Our data confirm the previous observations that application of the whole genome array-CGH should be considered in selected patients with undiagnosed MR and dysmorphic features...
  18. ncbi request reprint Subtelomeric rearrangements: results from FISH studies in 84 families with idiopathic mental retardation
    Ewa Bocian
    Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
    Med Sci Monit 10:CR143-51. 2004
    ..The etiology of mental retardation (MR) is unexplained in at least 50% of cases. Recently it was shown that subtle telomeric rearrangements may be a common cause of idiopathic mental retardation (IMR)...
  19. ncbi request reprint The usefulness of array comparative genomic hybridization in clinical diagnostics of intellectual disability in children
    Magdalena Bartnik
    Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul Kasprzaka 17a, 01 211 Warszawa, tel 022 32 77 145, e mail e mail
    Dev Period Med 18:307-17. 2014
    ....
  20. ncbi request reprint [Analysis of genomic imprinting defects in Angelman syndrome with application of quantitative real-time PCR]
    Agnieszka Szpecht-Potocka
    Zakład Genetyki Medycznej Instytut Matki i Dziecka, ul Kasprzaka 17a, 01 211 Warszawa
    Med Wieku Rozwoj 13:114-22. 2009
    ..Statistically, one third of patients with an imprinting defect and no IC deletion have somatic mosaicism...
  21. pmc Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes' clinical diagnostics
    Anna Kutkowska-Kazmierczak
    Department of Medical Genetics, The Institute of Mother and Child, ul Kasprzaka 17a, 01 211, Warsaw, Poland
    J Appl Genet 56:329-37. 2015
    ..Phenotype diversity among patients with the same genotypes reported to date is also summarized. The conclusion is that proper diagnosis of these syndromes is still challenging and should always be followed by molecular verification...
  22. ncbi request reprint The RASopathies as an example of RAS/MAPK pathway disturbances - clinical presentation and molecular pathogenesis of selected syndromes
    Natalia Bezniakow
    Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01 211 Warsaw, Poland, tel 48 22 32 77 361, tel 48 504 125 360, E mail
    Dev Period Med 18:285-96. 2014
    ..In this review, we present the clinical and molecular features of selected syndromes from the RASopathies group...
  23. ncbi request reprint [Moebius syndrome with facial-dental impairments - rare or rather seldom diagnosed syndrome?]
    Dorota Cudziło
    Instytut Matki i Dziecka, ul Kasprzaka 17a, 01 211 Warszawa
    Med Wieku Rozwoj 16:273-9. 2012
    ..Further orthodontic treatment envisaged extraction of permanent teeth and use of fixed appliances while waiting for the improvement of occlusion...
  24. ncbi request reprint [Prenatal diagnosis of cystic fibrosis in risk families in Poland--results of molecular analysis]
    Jerzy Bal
    Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul Kasprzaka 17a, 01 211 Warszawa
    Med Wieku Rozwoj 8:871-83. 2004
    ..One of the diagnostic tests that are offered to CF risk families is prenatal diagnostics of the disease. This kind of analysis may be performed in the first trimester of pregnancy and is based on the DNA analysis of the foetus...
  25. ncbi request reprint [Clinical picture and molecular analysis in a familial case of Nail-Patella Syndrome--identification of a new mutation in LMX1B gene]
    Krzysztof Szczałuba
    Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul Kasprzaka 17a, 01 211 Warszawa, Poland
    Med Wieku Rozwoj 9:195-203. 2005
    ..Characteristic clinical features, seen in both patients, are discussed within the context of molecular analysis results...
  26. ncbi request reprint Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation
    Katarzyna Borg
    Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
    Am J Med Genet A 143:2738-43. 2007
    ..We discuss the potential mechanisms of formation of the described CCR...
  27. ncbi request reprint Brain and cerebellar hemidysplasia in a case with ipsilateral body dysplasia and suspicion of CHILD syndrome
    Bogna Schmidt-Sidor
    Department of Neuropathology, Institute of Psychiatry and Neurology, Sobieskiego 9, 02 957 Warsaw, Poland
    Folia Neuropathol 46:232-7. 2008
    ..Analysis of child DNA isolated from skin fibroblasts showed missense mutation c.1046A>G;PpY349C in the NSDHL gene that could cause the phenotype...