Praenatalisan diagnosztizált Pallister-Killian-szindróma esete

Tidrenczel Zsolt, P. Tardy Erika, Sarkadi Edina, Simon Judit, Beke Artúr, Demeter János

Research output: Article

1 Citation (Scopus)

Abstract

Pallister-Killian syndrome (PKS) is a rare, sporadic genetic disorder that is caused by the mosaic presence of a supernumerary marker chromosome, isochromosome 12p. The syndrome is a polydysmorphic condition characterized by mental retardation, craniofacial dysmorphism, hypotonia, seizures, epilepsy and certain organic malformations (diaphragmatic hernia, congenital heart disease). Prenatal diagnosis is challenging due to the mosaic tissue-specific distribution of the chromosomal disorder and highly variable phenotype. Prenatal diagnosis is often accidental, however, appropriate laboratory techniques based on the second trimester ultrasound anomalies provide accurate prenatal diagnosis. We report a case of a 36-year-old primipara with second trimester ultrasound markers (polyhydramnion, ventriculomegaly, rhizomelic micromelia, abnormal facial profile). The patient underwent amniocentesis, the conventional karyotyping revealed a supernumerary chromosome in nearly 50 percent of amniocytes. FISH and targeted multicolour FISH probes verified mosaic tetrasomy of the short arm of chromosome 12 of the fetus. Fetopathological examinations and analysis of fetal tissues and blood confirmed the prenatal diagnosis. To our knowledge, this is the first reported case of prenatally diagnosed Pallister-Killian syndrome in Hungary.

Translated title of the contributionPrenatally diagnosed case of Pallister-Killian syndrome
Original languageHungarian
Pages (from-to)847-852
Number of pages6
JournalOrvosi Hetilap
Volume159
Issue number21
DOIs
Publication statusPublished - máj. 1 2018

Keywords

  • Multicolour FISH
  • Pallister-Killian syndrome
  • Prenatal ultrasound

ASJC Scopus subject areas

  • Medicine(all)

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  • Cite this

    Zsolt, T., Erika, P. T., Edina, S., Judit, S., Artúr, B., & János, D. (2018). Praenatalisan diagnosztizált Pallister-Killian-szindróma esete. Orvosi Hetilap, 159(21), 847-852. https://doi.org/10.1556/650.2018.31015