Mosaic small supernumerary marker chromosome 1 at amniocentesis: Prenatal diagnosis, molecular genetic analysis and literature review

被引：1

作者：

Chen, Chih-Ping ^{[1
,2
,3
,4
,5
,6
]}

Chen, Ming ^{[7
,8
,9
]}

Su, Yi-Ning ^{[10
]}

Huang, Jian-Pei ^{[1
,11
]}

Chern, Schu-Rern ^{[2
]}

Wu, Peih-Shan ^{[12
]}

Su, Jun-Wei ^{[1
,13
]}

Chang, Shun-Ping ^{[7
,8
]}

Chen, Yu-Ting ^{[2
]}

Lee, Chen-Chi ^{[1
]}

Chen, Li-Feng ^{[2
]}

Pan, Chen-Wen ^{[1
]}

Wang, Wayseen ^{[3
,14
]}

机构：

[1] Mackay Mem Hosp, Dept Obstet & Gynecol, Taipei, Taiwan

[2] Mackay Mem Hosp, Dept Med Res, Taipei, Taiwan

[3] Asia Univ, Dept Biotechnol, Taichung, Taiwan

[4] China Med Univ, Coll Chinese Med, Sch Chinese Med, Taichung, Taiwan

[5] Natl Yang Ming Univ, Inst Clin & Community Hlth Nursing, Taipei 112, Taiwan

[6] Natl Yang Ming Univ, Sch Med, Dept Obstet & Gynecol, Taipei 112, Taiwan

[7] Changhua Christian Hosp, Ctr Med Genet, Dept Med Res, Changhua, Taiwan

[8] Changhua Christian Hosp, Ctr Med Genet, Dept Genom Med, Changhua, Taiwan

[9] Changhua Christian Hosp, Dept Obstet & Gynecol, Changhua, Taiwan

[10] Taipei Med Univ, Coll Med, Sch Med, Dept Obstet & Gynecol, Taipei, Taiwan

[11] Mackay Med Nursing & Management Coll, Taipei, Taiwan

[12] Gene Biodesign Co Ltd, Taipei, Taiwan

[13] China Med Univ Hosp, Dept Obstet & Gynecol, Taichung, Taiwan

[14] Tatung Univ, Dept Bioengn, Taipei 104, Taiwan

来源：

GENE | 2013年 / 529卷 / 01期

关键词：

Amniocentesis; Chromosome 1p21.1-p12 duplication syndrome; Mosaicism; Prenatal diagnosis; Small supernumerary marker chromosome 1; CYTOGENETIC CHARACTERIZATION; RING CHROMOSOME-1; MUTATIONS CAUSE; NOTCH2; CAUSE; MICRO-FISH; IDENTIFICATION; ASSOCIATION; DISORDER; SCHIZOPHRENIA; DUPLICATION;

D O I：

10.1016/j.gene.2013.07.048

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We present prenatal diagnosis and molecular cytogenetic analysis of mosaic small supernumerary marker chromosome 1 [sSMC(1)]. We review the literature of sSMC(1) at amniocentesis and chromosome 1p21.1-p12 duplication syndrome. We discuss the genotype-phenotype correlation of the involved genes of AIX3, RBM15, NTNG1, SLC25A24, GPSM2, TBX15 and NOTCH2 in this case. (C) 2013 Elsevier B.V. All rights reserved.

引用

页码：169 / 175

页数：7

共 59 条

[1]

Anderlid BM, 2001, AM J MED GENET, V99, P223, DOI 10.1002/1096-8628(2001)9999:9999<::AID-AJMG1146>3.0.CO

[2]

2-W

[3] Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory [J].

Anguiano, Arturo ;

Wang, Boris T. ;

Wang, Shirong R. ;

Boyar, Fatih Z. ;

Mahon, Loretta W. ;

El Naggar, Mohamed M. ;

Kohn, Peter H. ;

Haddadin, Mary H. ;

Sulcova, Vladimira ;

Sbeiti, Adam H. ;

Ayad, Mervat S. ;

White, Beverly J. ;

Strom, Charles M. .

MOLECULAR CYTOGENETICS, 2012, 5

[4] Brain region-specific altered expression and association of mitochondria-related genes in autism [J].

Anitha, Ayyappan ;

Nakamura, Kazuhiko ;

Thanseem, Ismail ;

Yamada, Kazuo ;

Iwayama, Yoshimi ;

Toyota, Tomoko ;

Matsuzaki, Hideo ;

Miyachi, Taishi ;

Yamada, Satoru ;

Tsujii, Masatsugu ;

Tsuchiya, Kenji J. ;

Matsumoto, Kaori ;

Iwata, Yasuhide ;

Suzuki, Katsuaki ;

Ichikawa, Hironobu ;

Sugiyama, Toshiro ;

Yoshikawa, Takeo ;

Mori, Norio .

MOLECULAR AUTISM, 2012, 3

[5] Forty-two supernumerary marker chromosomes (SMCs) in 43 273 prenatal samples: chromosomal distribution, clinical findings, and UPD studies [J].

Bartsch, O ;

Loitzsch, A ;

Kozlowski, P ;

Mazauric, ML ;

Hickmann, G .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2005, 13 (11) :1192-1204

[6]

Callen DF, 1999, J MED GENET, V36, P847

[7] Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 2 [J].

Chen, Chih-Ping ;

Chen, Ming ;

Chern, Schu-Rern ;

Wu, Peih-Shan ;

Chang, Shun-Ping ;

Lee, Dong-Jay ;

Chen, Yu-Ting ;

Chen, Li-Feng ;

Su, Jun-Wei ;

Hsieh, Alan Hwa-Ruey ;

Hsieh, Alex Hwa-Jiun ;

Wang, Wayseen .

TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2012, 51 (03) :411-417

[8] Rapid positive confirmation of mosaicism for a small supernumerary marker chromosome as r(8) by interphase fluorescence in situ hybridization, quantitative fluorescent polymerase chain reaction, and array comparative genomic hybridization on uncultured amniocytes in a pregnancy with fetal pyelectasis [J].

Chen, Chih-Ping ;

Chang, Shuenn-Dyh ;

Su, Yi-Ning ;

Chen, Ming ;

Chern, Schu-Rern ;

Su, Jun-Wei ;

Chen, Yu-Ting ;

Chen, Wen-Lin ;

Pan, Chen-Wen ;

Lee, Meng-Shan ;

Wang, Wayseen .

TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2012, 51 (03) :405-410

[9] Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 4 [J].

Chen, Chih-Ping ;

Chen, Ming ;

Su, Yi-Ning ;

Tsai, Fuu-Jen ;

Chern, Schu-Rern ;

Wu, Pei-Chen ;

Chen, Wen-Lin ;

Chen, Li-Feng ;

Pan, Chen-Wen ;

Wang, Wayseen .

TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2011, 50 (02) :188-195

[10] PRENATAL DIAGNOSIS AND MOLECULAR CYTOGENETIC CHARACTERIZATION OF A SMALL SUPERNUMERARY MARKER CHROMOSOME DERIVED FROM CHROMOSOME 8 [J].

Chen, Chih-Ping ;

Chen, Ming ;

Ko, Tsang-Ming ;

Ma, Gwo-Chin ;

Tsai, Fuu-Jen ;

Tsai, Ming-Song ;

Wu, Pei-Chen ;

Lee, Chen-Chi ;

Chen, Li-Feng ;

Wang, Wayseen .

TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2010, 49 (04) :500-505

← 1 2 3 4 5 6 →