Praenatalisan diagnosztizált Pallister-Killian-szindróma esete

Translated title of the contribution: Prenatally diagnosed case of Pallister-Killian syndrome

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

Research output: Contribution to journalArticle

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.

Original languageHungarian
Pages (from-to)847-852
Number of pages6
JournalOrvosi Hetilap
Volume159
Issue number21
DOIs
Publication statusPublished - May 1 2018

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Prenatal Diagnosis
Second Pregnancy Trimester
Fetus
Tetrasomy
Chromosome Disorders
Isochromosomes
Chromosomes, Human, Pair 12
Karyotyping
Inborn Genetic Diseases
Muscle Hypotonia
Amniocentesis
Hungary
Tissue Distribution
Fetal Blood
Genetic Markers
Intellectual Disability
Heart Diseases
Epilepsy
Seizures
Chromosomes

ASJC Scopus subject areas

  • Medicine(all)

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

Praenatalisan diagnosztizált Pallister-Killian-szindróma esete. / Zsolt, Tidrenczel; Erika, P. Tardy; Edina, Sarkadi; Judit, Simon; Artúr, Beke; János, Demeter.

In: Orvosi Hetilap, Vol. 159, No. 21, 01.05.2018, p. 847-852.

Research output: Contribution to journalArticle

Zsolt, T, Erika, PT, Edina, S, Judit, S, Artúr, B & János, D 2018, 'Praenatalisan diagnosztizált Pallister-Killian-szindróma esete', Orvosi Hetilap, vol. 159, no. 21, pp. 847-852. https://doi.org/10.1556/650.2018.31015
Zsolt, Tidrenczel ; Erika, P. Tardy ; Edina, Sarkadi ; Judit, Simon ; Artúr, Beke ; János, Demeter. / Praenatalisan diagnosztizált Pallister-Killian-szindróma esete. In: Orvosi Hetilap. 2018 ; Vol. 159, No. 21. pp. 847-852.
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