Prenatal diagnosis of Pallister-Killian syndrome in young woman: ultrasound indicators and confirmation by FISH
Нема приказа
Аутори
Kolarski, MilenkoJoksić, Gordana
Beres, Maja
Krstić, Aleksandar
Joksić, Ivana
Dobrojevic, Boris
Nikic, Slavko
Чланак у часопису
Метаподаци
Приказ свих података о документуАпстракт
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 restr...iction could be one of the ultrasound markers associated with Pallister-Killian syndrome.
Кључне речи:
Prenatal diagnosis / IUGR / Amniocentesis / Tetrasomy 12pИзвор:
Archives of Gynecology and Obstetrics, 2009, 279, 3, 377-379Финансирање / пројекти:
- Serbian Ministry of Science and Environmental Protection [143046]
DOI: 10.1007/s00404-008-0704-6
ISSN: 0932-0067
PubMed: 18560861
WoS: 000262784600020
Scopus: 2-s2.0-58849122710
Колекције
Институција/група
VinčaTY - 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 . .