TY  - JOUR
AU  - Kolarski, Milenko
AU  - Joksić, Gordana
AU  - Beres, Maja
AU  - Krstić, Aleksandar
AU  - Joksić, Ivana
AU  - Dobrojevic, Boris
AU  - Nikic, Slavko
PY  - 2009
UR  - https://vinar.vin.bg.ac.rs/handle/123456789/3625
AB  - 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.
T2  - Archives of Gynecology and Obstetrics
T1  - Prenatal diagnosis of Pallister-Killian syndrome in young woman: ultrasound indicators and confirmation by FISH
VL  - 279
IS  - 3
SP  - 377
EP  - 379
DO  - 10.1007/s00404-008-0704-6
ER  - 

@article{
author = "Kolarski, Milenko and Joksić, Gordana and Beres, Maja and Krstić, Aleksandar and Joksić, Ivana and Dobrojevic, Boris and Nikic, Slavko",
year = "2009",
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.",
journal = "Archives of Gynecology and Obstetrics",
title = "Prenatal diagnosis of Pallister-Killian syndrome in young woman: ultrasound indicators and confirmation by FISH",
volume = "279",
number = "3",
pages = "377-379",
doi = "10.1007/s00404-008-0704-6"
}

Kolarski, M., Joksić, G., Beres, M., Krstić, A., Joksić, I., Dobrojevic, B.,& Nikic, S.. (2009). Prenatal diagnosis of Pallister-Killian syndrome in young woman: ultrasound indicators and confirmation by FISH. in Archives of Gynecology and Obstetrics, 279(3), 377-379.
https://doi.org/10.1007/s00404-008-0704-6

Kolarski M, Joksić G, Beres M, Krstić A, Joksić I, Dobrojevic B, Nikic S. Prenatal diagnosis of Pallister-Killian syndrome in young woman: ultrasound indicators and confirmation by FISH. in Archives of Gynecology and Obstetrics. 2009;279(3):377-379.
doi:10.1007/s00404-008-0704-6 .

Kolarski, Milenko, Joksić, Gordana, Beres, Maja, Krstić, Aleksandar, Joksić, Ivana, Dobrojevic, Boris, Nikic, Slavko, "Prenatal diagnosis of Pallister-Killian syndrome in young woman: ultrasound indicators and confirmation by FISH" in Archives of Gynecology and Obstetrics, 279, no. 3 (2009):377-379,
https://doi.org/10.1007/s00404-008-0704-6 . .