Partial tetrasomy 12pter-12p12.3 in a girl with Pallister-Killian syndrome: extraordinary finding of an analphoid, inverted duplicated marker
| ISSN: | 1018-4813 |
|---|---|
| Přístupová URL adresa: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e3b18e03c56cfb6de2462e72d72407a https://pubmed.ncbi.nlm.nih.gov/11528501 |
| Rights: | OPEN |
| Přírůstkové číslo: | edsair.doi.dedup.....2e3b18e03c56cfb6de2462e72d72407a |
| Autor: | Thomas Eggermann, Martin Schöning, Vladimir A. Trifonov, Claudia Walczak, Nikolai Rubtsov, Andreas Dufke, Thomas Liehr, Herbert Enders, Heike Starke |
| Rok vydání: | 2001 |
| Předmět: |
Genetic Markers
Marker chromosome Aneuploidy Biology Craniofacial Abnormalities Fingers Pallister–Killian syndrome Centromere Genetics medicine Humans Abnormalities Multiple Child Genetics (clinical) Chromosome 12 Chromosomal inversion Chromosomes Human Pair 12 Skull Infant Newborn Chromosome Infant Syndrome medicine.disease Molecular biology Child Preschool Chromosomal region Chromosome Inversion Female |
| Zdroj: | European journal of human genetics : EJHG. 9(8) |
| ISSN: | 1018-4813 |
| Popis: | Cytogenetic analysis in a girl with multiple congenital anomalies indicating Pallister-Killian syndrome (PKS) showed a supernumerary marker chromosome in 1/76 lymphocytes and 34/75 fibroblast metaphases. GTG-banding pattern was consistent with the chromosomal region 12pter-12q11. While fluorescence-in-situ hybridisation (FISH) with a whole chromosome 12 painting probe confirmed the origin of the marker, a chromosome 12 specific alpha-satellite probe did not hybridise to it. FISH analysis with a specific subtelomeric probe 12p showed hybridisation to both ends of the marker chromosome. High-resolution multicolour-banding (MCB) studies revealed the marker to be a der(12)(pter-->p12.3::p12.3-->pter). Summarising the FISH information, we defined the marker as an inverted duplication of 12pter-12p12.3 leading to partial tetrasomy of chromosome 12p. In skin fibroblasts, cultured at the patient's age of 1 year and 9 years, the marker chromosome was found in similar frequencies, even after several culture passages. Therefore, we consider the marker to have a functional centromere although it lacks detectable centromeric alpha-satellite sequences. To the best of our knowledge, this is the first proven analphoid marker of chromosome 12. Molecular genetic studies indicated that this marker is of paternal origin. The finding of partial tetrasomy 12pter-12p12.3 in our PKS patient allows to narrow down the critical region for PKS. |
| Databáze: | OpenAIRE |
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