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https://doi.org/10.21860/medflum2020_237307

Bifid cardiac apex in Pallister-Killian syndrome: case report

Anita Barišić ; Faculty of medicine, University of Rijeka, Department of Medical Biology and Genetics, B. Branchetta 20, 51000 Rijeka, Croatia
Aleks Finderle ; Clinical Hospital Center Rijeka, Department of Obstetrics and Gynecology, Krešimirova 42, 51000 Rijeka, Croatia
Oleg Petrović ; Clinical Hospital Center Rijeka, Department of Obstetrics and Gynecology, Krešimirova 42, 51000 Rijeka, Croatia
Jadranka Vraneković ; Faculty of medicine, University of Rijeka, Department of Medical Biology and Genetics, B. Branchetta 20, 51000 Rijeka, Croatia

Puni tekst: engleski, pdf (2 MB) str. 189-192 preuzimanja: 177* citiraj
APA 6th Edition
Barišić, A., Finderle, A., Petrović, O. i Vraneković, J. (2020). Bifid cardiac apex in Pallister-Killian syndrome: case report. Medicina Fluminensis, 56 (2), 189-192. https://doi.org/10.21860/medflum2020_237307
MLA 8th Edition
Barišić, Anita, et al. "Bifid cardiac apex in Pallister-Killian syndrome: case report." Medicina Fluminensis, vol. 56, br. 2, 2020, str. 189-192. https://doi.org/10.21860/medflum2020_237307. Citirano 24.10.2021.
Chicago 17th Edition
Barišić, Anita, Aleks Finderle, Oleg Petrović i Jadranka Vraneković. "Bifid cardiac apex in Pallister-Killian syndrome: case report." Medicina Fluminensis 56, br. 2 (2020): 189-192. https://doi.org/10.21860/medflum2020_237307
Harvard
Barišić, A., et al. (2020). 'Bifid cardiac apex in Pallister-Killian syndrome: case report', Medicina Fluminensis, 56(2), str. 189-192. https://doi.org/10.21860/medflum2020_237307
Vancouver
Barišić A, Finderle A, Petrović O, Vraneković J. Bifid cardiac apex in Pallister-Killian syndrome: case report. Medicina Fluminensis [Internet]. 2020 [pristupljeno 24.10.2021.];56(2):189-192. https://doi.org/10.21860/medflum2020_237307
IEEE
A. Barišić, A. Finderle, O. Petrović i J. Vraneković, "Bifid cardiac apex in Pallister-Killian syndrome: case report", Medicina Fluminensis, vol.56, br. 2, str. 189-192, 2020. [Online]. https://doi.org/10.21860/medflum2020_237307

Sažetak
Aim: Pallister-Killian syndrome (PKS) is a rare chromosomal disorder, caused by tissue-limited mosaicism for an isochromosome 12p. Prenatal diagnosis of PKS is generally incidental. Although clinical presentation of PKS varies, cytogenetic findings are constant, and include a tetrasomy of chromosome 12p. We report a case of prenatally diagnosed PKS with unique dysmorphic feature: bifid cardiac apex, a type of morphology that has not been documented before. Case presentation: Our patient was the 38-year-old pregnant woman who underwent amniocentesis. Cytogenetic analysis of amniotic fluid detected a mosaic karyotype with a supernumerary chromosome (SMC) in 64 % of fetal amniocytes. To determine the chromosomal origin of SMC, fluorescence in situ hybridization was performed and tetrasomy 12p was confirmed: mos 47,XY,+mar[18]/46,XY[10].ishi(12p)(8M16/SP6++,CEP12+,VIJyRM2196-). Ultrasound examination showed a fetus with cleft lip, echogenic focus in the left ventricle of the heart and shortened fetal long bones. After receiving a genetic counseling for PKS, the woman requested a termination of pregnancy. A postmortem inspection of the fetus revealed a complex heart anomaly that includes bifid cardiac apex and ventricular septal defect. Conclusions: This report expands the clinical manifestations of PKS with a unique feature of bifid cardiac apex, and highlights the targeted prenatal diagnosis of PKS if specific ultrasound markers are present.

Ključne riječi
bifid cardiac apex; Pallister Killian syndrome; prenatal diagnosis; ultrasound examination

Hrčak ID: 237307

URI
https://hrcak.srce.hr/237307

[hrvatski]

Posjeta: 640 *