| Autor: |
Kokotas Haris, Orru Sandro, Mihalatos Markos, Weise Anja, Neroutsou Rozita, Thomaidis Loreta, Kosyakova Nadezda, Manolakos Emmanouil, Kitsos George, Liehr Thomas, Petersen Michael B |
| Jazyk: |
angličtina |
| Rok vydání: |
2008 |
| Předmět: |
|
| Zdroj: |
Molecular Cytogenetics, Vol 1, Iss 1, p 24 (2008) |
| Druh dokumentu: |
article |
| ISSN: |
1755-8166 |
| DOI: |
10.1186/1755-8166-1-24 |
| Popis: |
Abstract We report on a 7 years and 4 months old Greek boy with mild microcephaly and dysmorphic facial features. He was a sociable child with maxillary hypoplasia, epicanthal folds, upslanting palpebral fissures with long eyelashes, and hypertelorism. His ears were prominent and dysmorphic, he had a long philtrum and a high arched palate. His weight was 17 kg (25th percentile) and his height 120 cm (50th percentile). High resolution chromosome analysis identified in 50% of the cells a normal male karyotype, and in 50% of the cells one chromosome 18 showed a terminal deletion from 18q21.32. Molecular cytogenetic investigation confirmed a del(18)(q21.32-qter) in the one chromosome 18, but furthermore revealed the presence of a duplication in q21.2 in the other chromosome 18. The case is discussed concerning comparable previously reported cases and the possible mechanisms of formation. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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