Mosaic trisomy r(14) associated with epilepsy and mental retardation (Journal article)

Tzoufi, M./ Kanioglou, C./ Dasoula, A./ Asproudis, I./ Tsatsoulis, A./ Sismani, C./ Patsalis, P. C./ Georgiou, I./ Syrrou, M.

We report a patient with moderate mental retardation, benign clinical course of epilepsy, and type 2 diabetes mellitus. The patient has a mosaic karyotype with 2 cell lines: 1 with a ring chromosome 14 [r(14)], and 1 with an apparently duplicated r(14) chromosome.
Institution and School/Department of submitter: Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής
Keywords: Abnormalities, Multiple/genetics,Adolescent,Adult,Child,Child, Preschool,*Chromosomes, Human, Pair 14,Diabetes Mellitus, Type 2/complications/genetics,Epilepsy/complications/*genetics,Humans,Intellectual Disability/complications/*genetics,Male,*Mosaicism,Phenotype,*Ring Chromosomes,Trisomy/*genetics
URI: https://olympias.lib.uoi.gr/jspui/handle/123456789/19915
ISSN: 0883-0738
Link: http://www.ncbi.nlm.nih.gov/pubmed/17715281
http://jcn.sagepub.com/content/22/7/869.full.pdf
Appears in Collections:Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά)

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