| Autor: |
Milković, Ivana, Đurišević, Ivana Tonković, Gornik, Kristina Crkvenac, Bilić, Anita Pokupec, Vidaković, Marija, Frković, Sanda Huljev |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
|
| DOI: |
10.1136/archdischild-2021-europaediatrics.85 |
| Popis: |
Pallister Killian syndrome is a rare genetic disorder caused by tissue-limited mosaicism tetrasomy of the short arm of chromosome 12, which usually presents as an extra isochromosome 12p. Clinical features include distinct facial anomalies, other systemic abnormalities with variable developmental delay and intellectual impairment. The aim of this work is to present clinical and cytogenetic findings of PKS patients diagnosed in our Clinic for the last 12 years and to compare their findings with previously published cases. The suspicion of PKS was set after the recognition of their characteristic phenotypic features. The diagnosis was confirmed by karyotype analysis of fibroblast cultures and In situ hybridization with chromosome 12-specific DNA, which revealed the supernumerary mosaic i(12p). Since 2008 four patients with PKS were diagnosed and treated at our Clinic. Karyotypes obtained from cultured peripheral lymphocytes were normal in two cases, while karyotypes obtained from cultured skin samples revealed the supernumerary mosaic i(12p) in all four patients. The wide phenotypic spectrum of PKS in conjunction with the mosaic distribution of the i(12p) makes PKS often an underdiagnosed disorder. Since additional chromosome is usually absent in karyotypes obtained from cultured peripheral lymphocytes, clinical recognition with skin biopsy and fibroblast chromosome examination is of utmost importance. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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