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Trisomy 8q and partial trisomy 22 in a 43‐year‐old man with moderate intellectual disability, epilepsy and large cell non‐Hodgkin lymphoma
Author(s) -
Helbig Ingo,
Wirtenberger Michael,
Jauch Anna,
Hager HansDieter,
Tariverdian Gholamali,
Hemminki Kari,
Burwinkel Barbara,
Klaes Ruediger
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31350
Subject(s) - trisomy , partial trisomy , gene duplication , derivative chromosome , karyotype , dup , chromosomal abnormality , breakpoint , epilepsy , abnormality , pediatrics , genetics , chromosome , medicine , biology , psychiatry , gene
Abstract 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. © 2006 Wiley‐Liss, Inc.