DE-NOVO TANDEM DUPLICATION OF CHROMOSOME SEGMENT 22QLL-Q12 - CLINICAL, CYTOGENETIC, AND MOLECULAR CHARACTERIZATION

被引：29

作者：

LINDSAY, EA

SHAFFER, LG

CARROZZO, R

GREENBERG, F

BALDINI, A

机构：

[1] BAYLOR COLL MED,DEPT MOLEC & HUMAN GENET,HOUSTON,TX 77030

[2] BAYLOR COLL MED,CTR HUMAN GENOME,HOUSTON,TX 77030

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 56卷 / 03期

关键词：

CHROMOSOME; 22; DUPLICATION; CAT-EYE SYNDROME; CONGENITAL HEART DEFECT;

D O I：

10.1002/ajmg.1320560316

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a case of duplication of the segment 22q11-q12 due to a de novo duplication. Molecular cytogenetics studies demonstrated this to be a tandem duplication, flanked proximally by the marker D22Z4, a centromeric alpha satellite DNA repeat, and distally by D22S260, an anonymous DNA marker proximal to the Ewing sarcoma breakpoint. The segment includes the regions responsible for the ''cat-eye,'' Di George, and velo-cardio-facial syndromes and extends distal to the breakpoint cluster region (BCR). The clinical picture is dominated by the cardiac defects and includes findings reminiscent of ''cat-eye'' syndrome. These findings reinforce the hypothesis that the proximal 22q region contains dosage-sensitive genes involved in development. (C) 1995 Wiley-Liss, Inc.

引用

收藏

页码：296 / 299

页数：4

相关论文

共 43 条

[31] Clinical and molecular characterization of three genomic rearrangements at chromosome 22q13.3 associated with autism spectrum disorder [J].

Chen, Chia-Hsiang ;

Chen, Hsin-I ;

Liao, Hsiao-Mei ;

Chen, Yann-Jang ;

Fang, Jye-Siung ;

Lee, Kuei-Fang ;

Gau, Susan Shur-Fen .

PSYCHIATRIC GENETICS, 2017, 27 (01) :23-33

[32] A 21 years follow-up of a girl patient with a pseudodicentric bisatellited chromosome 22 associated with partial trisomy 22pter→22q12.1:: Clinical, cytogenetic and molecular observations [J].

Vaglio, Alicia ;

Milunsky, Aubrey ;

Huang, Xin-Li ;

Quadrelli, Andrea ;

Mechoso, Burix ;

Maher, Thomas A. ;

Quadrelli, Roberto .

EUROPEAN JOURNAL OF MEDICAL GENETICS, 2008, 51 (04) :332-342

[33] Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p12 → q13.1::) associated with phenotypic abnormalities [J].

Chen, Chih-Ping ;

Lin, Shuan-Pei ;

Lin, Yi-Hui ;

Chern, Schu-Rern ;

Wu, Peih-Shan ;

Chen, Yen-Ni ;

Chen, Shin-Wen ;

Yang, Chien-Wen ;

Chen, Wen-Lin ;

Wang, Wayseen .

TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2016, 55 (06) :852-855

[34] Clinical and Molecular Cytogenetic Characterization of Four Patients With Unbalanced Translocation der(1)t(1;22XP36;q13) [J].

Gajecka, Marzena ;

Saadeh, Reem ;

Mackay, Katherine L. ;

Glotzbach, Caron D. ;

Spodar, Krystyna ;

Chitayat, David ;

Shaffer, Lisa G. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (21) :2777-2784

[35] A fourteen years follow-up of a case of partial, trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of chromosome 12: Clinical, cytogenetic and molecular observations [J].

Vaglio, Alicia ;

Milunsky, Aubrey ;

Huang, Xin-Li ;

Quadrelli, Andrea ;

Mechoso, Burix ;

Quadrelli, Roberto .

EUROPEAN JOURNAL OF MEDICAL GENETICS, 2007, 50 (03) :224-232

[36] Molecular cytogenetic characterization of a De Novo supernumerary ring chromosome 7 resulting in partial trisomy, tetrasomy, and hexasomy in a child with dysmorphic signs, congenital heart defect, and developmental delay [J].

von Beust, G ;

Sauter, SM ;

Liehr, T ;

Burfeind, P ;

Bartels, I ;

Starke, H ;

von Eggeling, F ;

Zoll, B .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 137A (01) :59-64

[37] A novel mosaic 22q11.2 micro-duplication syndrome: clinical report and literature review. Cerebro-oculo-facio-urethrogenito-skeletal syndrome: de novo condition [J].

Khosroshahi, Hashem E. ;

Ozdamar, Mustafa Yasar ;

Tukun, Fatma Ajlan ;

Ozkan, Esra Akyuz ;

Yararbas, Kanay ;

Adam, Mehmet .

INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE, 2016, 9 (06) :9734-9743

[38] Prenatal diagnosis and molecular cytogenetic characterization of de novo partial monosomy 3p (3p26.3 → pter) and partial trisomy 16q (16q23.1 → qter) [J].

Chen, Chih-Ping ;

Hung, Fung-Yu ;

Chern, Schu-Rern ;

Wu, Peih-Shan ;

Chen, Yen-Ni ;

Chen, Shin-Wen ;

Lee, Chen-Chi ;

Wang, Wayseen .

TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2016, 55 (02) :288-292

[39] Another Rare Case of a Child with de novo Terminal 9p Deletion and Co-Existing Interstitial 9p Duplication: Clinical Findings and Molecular Cytogenetic Study by Array-CGH [J].

Kowalczyk, M. ;

Tomaszewska, A. ;

Podbiol-Palenta, A. ;

Constantinou, M. ;

Wawrzkiewicz-Witkowska, A. ;

Kowalski, J. ;

Kaluzewski, B. ;

Zajaczek, S. ;

Srebniak, M. I. .

CYTOGENETIC AND GENOME RESEARCH, 2013, 139 (01) :9-16

[40] PRENATAL DIAGNOSIS AND MOLECULAR CYTOGENETIC CHARACTERIZATION OF DE NOVO PARTIAL TRISOMY 7P (7P15.3→PTER) AND PARTIAL MONOSOMY 13Q (13Q33.3→QTER) ASSOCIATED WITH DANDY-WALKER MALFORMATION) ABNORMAL SKULL DEVELOPMENT AND MICROCEPHALY [J].

Chen, Chih-Ping ;

Chen, Ming ;

Su, Yi Ning ;

Tsai, Fuu-Jen ;

Chern, Schu Rern ;

Hsu, Chin Yuan ;

Wu, Pei Chen ;

Town, Dai-Dyi ;

Lee, Dong Jay ;

Ma, Gwo-Chin ;

Wang, Wayseen .

TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2010, 49 (03) :320-326

← 1 2 3 4 5 →