Mosaic Trisomy 18 in a Five-Month-Old Infant
Individuals with mosaic trisomy 18, only approximately 5% of all trisomy 18 cases, carry both a trisomy 18 and an euploid cell line. Their clinical findings are highly variable, from the absence of dysmorphic features to the complete trisomy 18 syndrome. A five-month-old daughter of a 38-year-old mo...
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| Format: | Article |
| Language: | English |
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Wiley
2013-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2013/929861 |
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| author | Ana Laura Fitas Mafalda Paiva Ana Isabel Cordeiro Luís Nunes Gonçalo Cordeiro-Ferreira |
| author_facet | Ana Laura Fitas Mafalda Paiva Ana Isabel Cordeiro Luís Nunes Gonçalo Cordeiro-Ferreira |
| author_sort | Ana Laura Fitas |
| collection | DOAJ |
| description | Individuals with mosaic trisomy 18, only approximately 5% of all trisomy 18 cases, carry both a trisomy 18 and an euploid cell line. Their clinical findings are highly variable, from the absence of dysmorphic features to the complete trisomy 18 syndrome. A five-month-old daughter of a 38-year-old mother, with vomiting and feeding problems, was referred to our department. She was undernourished and had axial hypotony and developmental delay, an irregular pattern of hypopigmentation on the right side of the abdomen, and moderate sagittal body asymmetry with left-side muscular hemihypotrophy. Mild craniofacial dysmorphy included dolichocephaly, frontal bossing, prominent occiput, long downslanting palpebral fissures, hypertelorism, and retrognathia. A complex heart defect with atrial and ventricular septal defects, pulmonary artery stenosis, and bicuspid aortic valve was identified. Cytogenetic analysis revealed mosaic trisomy 18 with trisomy in 90% of peripheral lymphocytes and 17% of skin fibroblasts. This case adds to our knowledge of the phenotypic spectrum and the natural history of mosaic trisomy 18 by adding a dysmorphic feature and a cardiac abnormality that, to the best of our knowledge, had not been previously described. |
| format | Article |
| id | doaj-art-72f24acca443454b9eaf7a626d2d63e9 |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-72f24acca443454b9eaf7a626d2d63e92025-02-03T07:24:37ZengWileyCase Reports in Pediatrics2090-68032090-68112013-01-01201310.1155/2013/929861929861Mosaic Trisomy 18 in a Five-Month-Old InfantAna Laura Fitas0Mafalda Paiva1Ana Isabel Cordeiro2Luís Nunes3Gonçalo Cordeiro-Ferreira4Área de Pediatria Médica, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, EPE, Rua Jacinta Marto, 1169-045 Lisboa, PortugalÁrea de Pediatria Médica, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, EPE, Rua Jacinta Marto, 1169-045 Lisboa, PortugalÁrea de Pediatria Médica, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, EPE, Rua Jacinta Marto, 1169-045 Lisboa, PortugalÁrea de Pediatria Médica, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, EPE, Rua Jacinta Marto, 1169-045 Lisboa, PortugalÁrea de Pediatria Médica, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, EPE, Rua Jacinta Marto, 1169-045 Lisboa, PortugalIndividuals with mosaic trisomy 18, only approximately 5% of all trisomy 18 cases, carry both a trisomy 18 and an euploid cell line. Their clinical findings are highly variable, from the absence of dysmorphic features to the complete trisomy 18 syndrome. A five-month-old daughter of a 38-year-old mother, with vomiting and feeding problems, was referred to our department. She was undernourished and had axial hypotony and developmental delay, an irregular pattern of hypopigmentation on the right side of the abdomen, and moderate sagittal body asymmetry with left-side muscular hemihypotrophy. Mild craniofacial dysmorphy included dolichocephaly, frontal bossing, prominent occiput, long downslanting palpebral fissures, hypertelorism, and retrognathia. A complex heart defect with atrial and ventricular septal defects, pulmonary artery stenosis, and bicuspid aortic valve was identified. Cytogenetic analysis revealed mosaic trisomy 18 with trisomy in 90% of peripheral lymphocytes and 17% of skin fibroblasts. This case adds to our knowledge of the phenotypic spectrum and the natural history of mosaic trisomy 18 by adding a dysmorphic feature and a cardiac abnormality that, to the best of our knowledge, had not been previously described.http://dx.doi.org/10.1155/2013/929861 |
| spellingShingle | Ana Laura Fitas Mafalda Paiva Ana Isabel Cordeiro Luís Nunes Gonçalo Cordeiro-Ferreira Mosaic Trisomy 18 in a Five-Month-Old Infant Case Reports in Pediatrics |
| title | Mosaic Trisomy 18 in a Five-Month-Old Infant |
| title_full | Mosaic Trisomy 18 in a Five-Month-Old Infant |
| title_fullStr | Mosaic Trisomy 18 in a Five-Month-Old Infant |
| title_full_unstemmed | Mosaic Trisomy 18 in a Five-Month-Old Infant |
| title_short | Mosaic Trisomy 18 in a Five-Month-Old Infant |
| title_sort | mosaic trisomy 18 in a five month old infant |
| url | http://dx.doi.org/10.1155/2013/929861 |
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