Naslov
Bifid cardiac apex in Pallister-Killian syndrome: case report

Autori
Barišić, Anita ; Finderle, Aleks ; Petrović, Oleg ; Vraneković, Jadranka

Izvornik
Medicina Fluminensis (1847-6864) 56 (2020), 2; 189-192

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, prikaz, znanstveni

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

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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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