Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report

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 ph...

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Detalles Bibliográficos
Autores principales: Manolakos, Emmanouil, Kosyakova, Nadezda, Thomaidis, Loreta, Neroutsou, Rozita, Weise, Anja, Mihalatos, Markos, Orru, Sandro, Kokotas, Haris, Kitsos, George, Liehr, Thomas, Petersen, Michael B
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2587471/
https://www.ncbi.nlm.nih.gov/pubmed/19014423
http://dx.doi.org/10.1186/1755-8166-1-24

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2587471/
https://www.ncbi.nlm.nih.gov/pubmed/19014423
http://dx.doi.org/10.1186/1755-8166-1-24

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