Archives of Gynecology and Obstetrics

, Volume 279, Issue 3, pp 377–379 | Cite as

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

  • Milenko Kolarski
  • Gordana JoksićEmail author
  • Maja Bereš
  • Aleksandar Krstić
  • Ivana Joksić
  • Boris Dobrojević
  • Slavko Nikić
Case Report


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.


Prenatal diagnosis IUGR Amniocentesis Tetrasomy 12p 



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


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Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • Milenko Kolarski
    • 1
  • Gordana Joksić
    • 2
    • 4
    Email author
  • Maja Bereš
    • 3
  • Aleksandar Krstić
    • 4
  • Ivana Joksić
    • 5
  • Boris Dobrojević
    • 3
  • Slavko Nikić
    • 3
  1. 1.Institute of Children Health Care Novi SadNovi SadSerbia
  2. 2.Vinča Institute of Nuclear SciencesBelgradeSerbia
  3. 3.Clinical Center Brcko DistrictBrckoBosnia and Herzegovina
  4. 4.Institute of Laboratory Medicine AqalabBelgradeSerbia
  5. 5.Clinic of Gynecology and Obstetrics “Naroodni front”BelgradeSerbia

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