Trisomy 8q and partial trisomy 22 in a 43-year-old man with moderate intellectual disability, epilepsy and large cell non-Hodgkin lymphoma.
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 predominant clinical features of trisomy 8q. To our knowledge, this is the oldest patient described with a partial trisomy 8. The patient presented with moderate intellectual disability, a past history of epilepsy and facial anomalies. In addition, a large cell non-Hodgkin lymphoma was diagnosed in adulthood. Detailed breakpoint mapping by single nucleotide polymorphism (SNP) arrays showed that the derivative chromosome contains a full-length copy of the C-MYC oncogene. Given that trisomy 8q is the most frequent secondary chromosomal abnormality in hematological diseases, the possibility of a genetic predisposition for these disorders in patients with 8q duplication is raised.
Helbig
Ingo
I
Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany.
Wirtenberger
Michael
M
Jauch
Anna
A
Hager
Hans-Dieter
HD
Tariverdian
Gholamali
G
Hemminki
Kari
K
Burwinkel
Barbara
B
Klaes
Ruediger
R
D000328:Adult; D002869:Chromosome Aberrations; D002892:Chromosomes, Human, Pair 22; D002898:Chromosomes, Human, Pair 8; D004827:Epilepsy / Q000150:complications* / Q000235:genetics*; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics*; D016403:Lymphoma, Large B-Cell, Diffuse / Q000150:complications* / Q000235:genetics*; D008228:Lymphoma, Non-Hodgkin / Q000150:complications* / Q000235:genetics*; D008297:Male; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D014314:Trisomy