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

被引：26

作者：

Harada, N

Takano, J

Kondoh, T

Ohashi, H

Hasegawa, T

Sugawara, H

Ida, T

Yoshiura, K

Ohta, T

Kishino, T

Kajii, T

Niikawa, N

Matsumoto, N

机构：

[1] Nagasaki Univ, Sch Med, Dept Human Genet, Nagasaki 8528523, Japan

[2] Nagasaki Univ, Sch Med, Dept Otolaryngol, Nagasaki 8528523, Japan

[3] Nagasaki Univ, Sch Med, Dept Pediat, Nagasaki 8528523, Japan

[4] JST, CREST, Kawaguchi, Japan

[5] Kyushu Med Sci Nagasaki Lab, Nagasaki, Japan

[6] Keio Univ, Sch Med, Dept Pediat, Tokyo, Japan

[7] Yamagata Univ, Sch Med, Dept Orthoped Surg, Yamagata 99023, Japan

[8] Nagasaki Univ, Ctr Gene Res, Nagasaki 852, Japan

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 2002年 / 111卷 / 03期

关键词：

Sp23.2; duplication; duplication polymorphism; benign variant;

D O I：

10.1002/ajmg.10584

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 2002 Wiley-Liss, Inc.

引用

页码：285 / 288

页数：4

共 12 条

[1] Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance [J].

Barber, JCK ;

Joyce, CA ;

Collinson, MN ;

Nicholson, JC ;

Willatt, LR ;

Dyson, HM ;

Bateman, MS ;

Green, AJ ;

Yates, JRW ;

Dennis, NR .

JOURNAL OF MEDICAL GENETICS, 1998, 35 (06) :491-496

[2] Identification of a subtle t(16;19)(p13.3;p13.3) in an infant with multiple congenital abnormalities using a 12-colour multiplex FISH telomere assay, M-TEL [J].

Brown, J ;

Horsley, SW ;

Jung, C ;

Saracoglu, K ;

Janssen, B ;

Brough, M ;

Daschner, M ;

Beedgen, B ;

Kerkhoffs, G ;

Eils, R ;

Harris, PC ;

Jauch, A ;

Kearney, L .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2000, 8 (12) :903-910

[3]

Engelen JJM, 2000, AM J MED GENET, V91, P18, DOI 10.1002/(SICI)1096-8628(20000306)91:1<18::AID-AJMG3>3.3.CO

[4]

2-V

[5] FAMILIAL PARTIAL TRISOMY-8P WITHOUT DYSMORPHIC FEATURES AND ONLY MILD MENTAL-RETARDATION [J].

ENGELEN, JJM ;

DEDIESMULDERS, CEM ;

SIJSTERMANS, JMJ ;

MEERS, LEC ;

ALBRECHTS, JCM ;

HAMERS, AJH .

JOURNAL OF MEDICAL GENETICS, 1995, 32 (10) :792-795

[6] Direct duplication of 8p21.3→p23.1:: A cytogenetic anomaly associated with developmental delay without consistent clinical features [J].

Fan, YS ;

Siu, VM ;

Jung, JH ;

Farrell, SA ;

Côté, GB .

AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 103 (03) :231-234

[7]

Gibbons B, 1999, J MED GENET, V36, P419

[8]

Graw SL, 2001, AM J HUM GENET, V69, P292

[9]

Kennedy SJ, 2001, AM J MED GENET, V104, P79, DOI 10.1002/1096-8628(20011115)104:1<79::AID-AJMG1598>3.0.CO

[10]

2-T

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