USING OF MULTIPLE CHROMOSOMAL AND MOLECULAR ANALYSES TO ELUCIDATE THE ETIOLOGY OF PLURIMALFORMATIVE SYNDROMES

Authors

  • Lacramioara BUTNARIU “Grigore T. Popa” University of Medicine and Pharmacy Iasi
  • Mihaela GRAMESCU “Grigore T. Popa” University of Medicine and Pharmacy Iasi
  • Lavinia CABA “Grigore T. Popa” University of Medicine and Pharmacy Iasi
  • Monica Panzaru “Grigore T. Popa” University of Medicine and Pharmacy Iasi
  • Elena BRAHA “Grigore T. Popa” University of Medicine and Pharmacy Iasi
  • Roxana POPESCU “Grigore T. Popa” University of Medicine and Pharmacy Iasi
  • Setalia POPA “Grigore T. Popa” University of Medicine and Pharmacy Iasi
  • Cristina RUSU “Grigore T. Popa” University of Medicine and Pharmacy Iasi
  • Georgeta CARDOS Personal Genetics Laboratory Bucharest, Romania
  • Monica ZELENIUC Personal Genetics Laboratory Bucharest, Romania
  • Violeta MARTINIUC “Cuza-Voda” Obstetrics and Gynecology Hospital, Iasi, Romania
  • Vasilica PLAIASU National Institute for Maternal and Child Health “Alfred Rusescu” Bucharest, Romania
  • Carmen DIACONU National Institute of Virology “Ştefan S. Nicolau” Bucharest, Romania
  • E.V. GORDUZA “Grigore T. Popa” University of Medicine and Pharmacy Iasi

Abstract

Congenital anomalies are structural or functional abnormalities occurring during intrauterine life in 3% of all pregnancies, representing an important public health problem through frequency, morbidity and mortality. In 6% of cases they are determined by unbalanced chromosomal abnormalities and their cytogenetic diagnosis is a prerequisite for proper management including proper genetic counseling. Material and methods: The retrospective study included 331 patients who were investigated by clinical and cytogenetic (conventional or molecular) methods at the Genetics Pathology Center in Iaşi, from 1 January 2015 to 31 December 2016. Results: The study group was divided into four subgroups: patients with plurimalformative syndromes or patients with association of multiple congenital anomalies (108 cases of which in 25 patients were confirmed with an unbalanced structural or numerical chromosomal abnormalities), patients with craniofacial dysmorphism (88 cases - in five cases cytogenetic abnormalities were confirmed), patients with Down syndrome (96 cases - 90 being cytogenetically confirmed), patients with Turner syndrome (39 cases of which 16 were cytogenetically confirmed). In 24 patients Fluorescence in Situ Hybridization (FISH) was applied with probes for the chromosomal regions involved in clinically suspected microdeletion syndromes and in 12 cases these were confirmed. In the other 12 cases (not confirmed by karyotype / FISH) we demonstrated that the syndrome is generated by another type of molecular mechanism using Multiplex ligation dependent probes amplification (MLPA). In 11 cases with complex chromosomal abnormalities, the investigation continued and the array CGH investigation is still in progress. Conclusions: Elucidation of the chromosomal etiology of congenital anomalies is important for providing appropriate genetic counseling and identifying other people with high genetic risk in their family.

Author Biographies

  • Lacramioara BUTNARIU, “Grigore T. Popa” University of Medicine and Pharmacy Iasi

    Faculty of Medicine
    Department of Mother and Child Medicine

  • Mihaela GRAMESCU, “Grigore T. Popa” University of Medicine and Pharmacy Iasi

    Faculty of Medicine
    Department of Mother and Child Medicine

  • Lavinia CABA, “Grigore T. Popa” University of Medicine and Pharmacy Iasi

    Faculty of Medicine
    Department of Mother and Child Medicine

  • Monica Panzaru, “Grigore T. Popa” University of Medicine and Pharmacy Iasi

    Faculty of Medicine
    Department of Mother and Child Medicine

  • Elena BRAHA, “Grigore T. Popa” University of Medicine and Pharmacy Iasi

    Faculty of Medicine
    Department of Mother and Child Medicine

  • Roxana POPESCU, “Grigore T. Popa” University of Medicine and Pharmacy Iasi

    Faculty of Medicine
    Department of Mother and Child Medicine

  • Setalia POPA, “Grigore T. Popa” University of Medicine and Pharmacy Iasi

    Faculty of Medicine
    Department of Mother and Child Medicine

  • Cristina RUSU, “Grigore T. Popa” University of Medicine and Pharmacy Iasi

    Faculty of Medicine
    Department of Mother and Child Medicine

  • Georgeta CARDOS, Personal Genetics Laboratory Bucharest, Romania


  • Violeta MARTINIUC, “Cuza-Voda” Obstetrics and Gynecology Hospital, Iasi, Romania

    Medical Genetics Department

  • E.V. GORDUZA, “Grigore T. Popa” University of Medicine and Pharmacy Iasi

    Faculty of Medicine
    Department of Mother and Child Medicine
    “Cuza-Voda” Obstetrics and Gynecology Hospital, Iasi, Romania
    Medical Genetics Department

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Additional Files

Published

2017-09-30

Issue

Vol. 121 No. 3 (2017): The Medical-Surgical Journal

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BASIC SCIENCES

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