Article
Trisomy 8q and partial trisomy 22 in a 43-year-old man with moderate intellectual disability, epilepsy and large cell non-Hodgkin lymphoma.
American journal of medical genetics. Part A - 1 Aug 2006
Helbig Ingo, Wirtenberger Michael, Jauch Anna, Hager Hans-Dieter, Tariverdian Gholamali, Hemminki Kari, Burwinkel Barbara, Klaes Ruediger
Abstract excerpt
Partial trisomies are chromosome abnormalities resulting in a broad range of malformations depending on the size and location of the chromosomal rearrangement. Whereas diagnosis of these syndromes is usually made in early childhood, few descriptions exist about the clinical picture in adulthood. We report on a patient diagnosed at the age of 43 years with a 47,XY,+der(22)t(8;22)(q24.13;q11.21) karyotype and...
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