Síndrome por deleción 18p diagnosticado por array de hibridación genómica comparada. Presentación de un caso con fenotipo leve
Deletion on the short arm of chromosome 18 is an infrequent syndrome and it is characterized by the following features: mental retardation, growth retardation, craniofacial malformations such as large ears, microcephaly, and short neck. The phenotypical spectrum is a wide range of abnormalities incl...
- Autores:
-
Pachajoa Londoño, Harry Mauricio
- Tipo de recurso:
- Informe
- Fecha de publicación:
- 2016
- Institución:
- Universidad ICESI
- Repositorio:
- Repositorio ICESI
- Idioma:
- spa
- OAI Identifier:
- oai:repository.icesi.edu.co:10906/81646
- Acceso en línea:
- http://hdl.handle.net/10906/81646
http://dx.doi.org/10.5546/aap.2016.e448
- Palabra clave:
- Síndrome
Retardo mental
Malformaciones
Ciencias socio biomédicas
Medical sciences
Anomalías congénitas
- Rights
- openAccess
- License
- http://purl.org/coar/access_right/c_abf2
| Summary: | Deletion on the short arm of chromosome 18 is an infrequent syndrome and it is characterized by the following features: mental retardation, growth retardation, craniofacial malformations such as large ears, microcephaly, and short neck. The phenotypical spectrum is a wide range of abnormalities including minor congenital abnormalities to holoprosencephaly. We present a case of a 10 year old girl who is found to have a deletion on the short arm of chromosome 18 (18p11.32-p11.21), by conventional cytogenetic analysis and comparative genomic hybridization. |
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