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

doi:10.1002/ajmg.10584

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

Department of Pediatrics

Research output: Contribution to journal › Article › peer-review

29 Citations (Scopus)

Abstract

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 language	English
Pages (from-to)	285-288
Number of pages	4
Journal	American journal of medical genetics
Volume	111
Issue number	3
DOIs	https://doi.org/10.1002/ajmg.10584
Publication status	Published - 2002 Aug 15

Keywords

8p23.2 duplication
Benign variant
Duplication polymorphism

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/ajmg.10584

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title = "Duplication of 8p23.2: A benign cytogenetic variant?",

abstract = "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.",

keywords = "8p23.2 duplication, Benign variant, Duplication polymorphism",

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month = aug,

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doi = "10.1002/ajmg.10584",

language = "English",

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pages = "285--288",

journal = "American Journal of Medical Genetics",

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T1 - Duplication of 8p23.2

T2 - A benign cytogenetic variant?

AU - Harada, Naoki

AU - Takano, Jun

AU - Kondoh, Tatsuro

AU - Ohashi, Hirofumi

AU - Hasegawa, Tomonobu

AU - Sugawara, Hirobumi

AU - Ida, Tomoko

AU - Yoshiura, Ko Ichiro

AU - Ohta, Tohru

AU - Kishino, Tatsuya

AU - Kajii, Tadashi

AU - Niikawa, Norio

AU - Matsumoto, Naomichi

PY - 2002/8/15

Y1 - 2002/8/15

N2 - 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.

AB - 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.

KW - 8p23.2 duplication

KW - Benign variant

KW - Duplication polymorphism

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JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

IS - 3

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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