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Prenatal diagnosis of Pallister-Killian syndrome
American Journal of Medical Genetics
|April 1, 1990
Insights
Pallister-Killian syndrome was identified via amniocentesis by detecting i(12p). This chromosomal abnormality, isochromosome 12p, was present in multiple fetal tissues, indicating mosaicism.
Area of Science:
- Genetics
- Prenatal Diagnosis
- Human Pathology
Background:
- Pallister-Killian syndrome is a rare genetic disorder characterized by specific physical features and developmental delays.
- The syndrome is typically caused by an extra copy of the short arm of chromosome 12, often in a mosaic form.
Purpose of the Study:
- To report a case of Pallister-Killian syndrome diagnosed prenatally.
- To describe the cytogenetic findings in fetal tissues.
Main Methods:
- Routine amniocentesis for prenatal diagnosis.
- Karyotyping of amniotic fluid cells.
- Post-mortem examination of fetal tissues.
Main Results:
- Amniocentesis revealed isochromosome 12p (i(12p)).
- Analysis of four fetal tissues showed mosaicism with varying percentages of 46/47 + i(12p) cells.
- Autopsy identified some minor anomalies consistent with Pallister-Killian syndrome, despite the absence of major malformations.
Conclusions:
- Prenatal diagnosis of Pallister-Killian syndrome is feasible through amniocentesis and cytogenetic analysis.
- Isochromosome 12p with mosaicism can be detected in multiple fetal tissues.
- The presence of minor anomalies in the absence of major malformations highlights the variable expressivity of the syndrome.
Abstract:
We describe a case of Pallister-Killian syndrome ascertained by routine amniocentesis as i(12p). The i(12p) was also found in 4 tissues of the aborted fetus, where various degrees of mosaicism 46/47 + i(12p) were seen. Although autopsy showed no major malformations, some of the minor anomalies of Pallister-Killian syndrome were found.