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Prenatal diagnosis of Pallister–Killian syndrome in young woman: ultrasound indicators and confirmation by FISH

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Abstract

We report the first case of Pallister–Killian syndrome diagnosed prenatally in Western Balkan region where one of the ultrasound markers was intrauterine growth restriction. During routine ultrasound control of the pregnancy at 21st gestation week (second pregnancy of the 25 year old woman) symmetrical intrauterine growth restriction (IUGR), short long bones, ventriculomegaly and oligoamnion were noted. Amniotic fluid was examined cytogenetically. Fetal karyotype obtained by GTG banding of amniocytes revealed mosaic female karyotype 46,XX/47,XX,+mar (F-like). C-banding indicated that F-like marker does not belong to F, E or G chromosomal group. Employing targeted FISH with arm-specific probe for chromosome 12, tetrasomy 12p was confirmed. Fetal lymphocytes revealed normal female karyotype. This case showed that i(12p) could be found in pregnancy of young woman, not only in those of advanced age, as usually reported in the literature. This case also showed that intrauterine growth restriction could be one of the ultrasound markers associated with Pallister–Killian syndrome.

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Acknowledgments

The study is supported by the Serbian Ministry of Science and Environmental Protection, Project No 143046.

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Authors and Affiliations

  1. Institute of Children Health Care Novi Sad, Novi Sad, Serbia

    Milenko Kolarski

  2. Vinča Institute of Nuclear Sciences, POB 522, 11000, Belgrade, Serbia

    Gordana Joksić

  3. Clinical Center Brcko District, Brcko, Bosnia and Herzegovina

    Maja Bereš, Boris Dobrojević & Slavko Nikić

  4. Institute of Laboratory Medicine Aqalab, Belgrade, Serbia

    Gordana Joksić & Aleksandar Krstić

  5. Clinic of Gynecology and Obstetrics “Naroodni front”, Belgrade, Serbia

    Ivana Joksić

Authors
  1. Milenko Kolarski
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  2. Gordana Joksić
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  3. Maja Bereš
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  4. Aleksandar Krstić
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  5. Ivana Joksić
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  6. Boris Dobrojević
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  7. Slavko Nikić
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Correspondence to Gordana Joksić.

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Kolarski, M., Joksić, G., Bereš, M. et al. Prenatal diagnosis of Pallister–Killian syndrome in young woman: ultrasound indicators and confirmation by FISH. Arch Gynecol Obstet 279, 377–379 (2009). https://doi.org/10.1007/s00404-008-0704-6

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  • DOI: https://doi.org/10.1007/s00404-008-0704-6

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