An unusual case of cat-eye syndrome phenotype and extragonadal mature teratoma: Review of the literature
| Autor: | Eleni Leze, Krinio Giannikou, Aggeliki Kolialexi, Konstantina Kosma, Kalliopi Stefanaki, Areti Syrmou, Vasilis Oikonomakis, Christalena Sofocleous, Sophia Kitsiou-Tzeli, Maria Tzetis, Michael Choulakis, Periklis Makrythanasis |
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| Rok vydání: | 2012 |
| Předmět: |
Embryology
Pathology medicine.medical_specialty Extragonadal Chromosomes Human Pair 22 Marker chromosome Dizygotic twin Chromosome Disorders Biology Fetus in fetu medicine Humans Eye Abnormalities In Situ Hybridization Fluorescence Comparative Genomic Hybridization medicine.diagnostic_test Teratoma Infant General Medicine Aneuploidy medicine.disease Cat eye syndrome Phenotype Head and Neck Neoplasms Karyotyping Pediatrics Perinatology and Child Health Female Chromosome 22 Developmental Biology Fluorescence in situ hybridization |
| Zdroj: | Birth Defects Research Part A: Clinical and Molecular Teratology. 94:561-566 |
| ISSN: | 1542-0752 |
| DOI: | 10.1002/bdra.23038 |
| Popis: | BACKGROUND Cat-Eye syndrome (CES) with teratoma has not been previously reported. We present the clinical and molecular findings of a 9-month-old girl with features of CES and also a palpable midline neck mass proved to be an extragonadal mature teratoma, additionally characterized by array comparative genomic hybridization (aCGH). RESULTS High resolution oligonucleotide-based aCGH confirmed that the supernumerary marker chromosome (SMC) derived from chromosome 22, as was indicated by molecular cytogenetic analysis with fluorescence in situ hybridization (FISH). Additionally, aCGH clarified the size, breakpoints, and gene content of the duplication (dup 22q11.1q11.21; size:1.6 Mb; breakpoints: 15,438,946-17,041,773; hg18). The teratoma tissue was also tested with aCGH, in which the CES duplication was not found, but the analysis revealed three aberrations: del Xp22.3 (108,864-2788,689; 2.7 Mb hg18), dup Yp11.2 (6688,491-7340,982; 0.65 Mb, hg18), and dup Yq11.2q11.23 (12,570,853-27,177,133; 14.61 Mb, hg18). These results indicated 46 XY (male) karyotype of the teratoma tissue, making this the second report of mature extragonadal teratoma in a female neonate, probably deriving from an included dizygotic twin of opposite sex (fetus in fetu). CONCLUSIONS Our findings extend the phenotypic spectrum of CES syndrome, a disorder with clinical variability, pointing out specific dosage-sensitive genes that might contribute to specific phenotypic features. |
| Databáze: | OpenAIRE |
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