Duplication of 8p23.2: A benign cytogenetic variant?

Naoki Harada, Jun Takano, Tatsuro Kondoh, Hirofumi Ohashi, Tomonobu Hasegawa, Hirobumi Sugawara, Tomoko Ida, Ko Ichiro Yoshiura, Tohru Ohta, Tatsuya Kishino, Tadashi Kajii, Norio Niikawa, Naomichi Matsumoto

Research output: Contribution to journalArticlepeer-review

29 Citations (Scopus)


We describe a duplication of the 8p23.2 band in seven individuals from four families. The duplication was recognizable as an enlarged 8p23.2 band on G-banded chromosomes at the 550 band level. It was transmitted from a parent to offspring in three of the four families in which both parents were karyotyped. Each proband in the four families had the enlarged band and showed various phenotypic abnormalities, but the abnormalities were inconsistent. Chromosomal and interphase fluorescence in situ hybridization (FISH) analysis of the enlarged band region defined a 2.5-Mb duplicated segment common to all seven individuals studied. Interphase FISH analysis of peripheral blood lymphocytes from 50 unrelated normal individuals showed the duplication in three individuals. In view of these findings, it is most likely that the 8p23.2 duplication we described is a normal variant.

Original languageEnglish
Pages (from-to)285-288
Number of pages4
JournalAmerican journal of medical genetics
Issue number3
Publication statusPublished - 2002 Aug 15


  • 8p23.2 duplication
  • Benign variant
  • Duplication polymorphism

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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