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...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Manolakos, Emmanouil, Kosyakova, Nadezda, Thomaidis, Loreta, Neroutsou, Rozita, Weise, Anja, Mihalatos, Markos, Orru, Sandro, Kokotas, Haris, Kitsos, George, Liehr, Thomas, Petersen, Michael B
التنسيق: Artigo
اللغة:Inglês
منشور في: BioMed Central 2008
الموضوعات:
Case Report
الوصول للمادة أونلاين:https://ncbi.nlm.nih.gov/pmc/articles/PMC2587471/
https://ncbi.nlm.nih.gov/pubmed/19014423
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-1-24
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