PURE DISTAL 11q DELETION WITHOUT ADDITIONAL GENOMIC IMBALANCES IN A FEMALE INFANT WITH JACOBSEN SYNDROME AND A DE NOVO UNBALANCED RECIPROCAL TRANSLOCATION

被引：1

作者：

Chen, C. -P. ^{[1
,2
,3
,4
,5
,6
]}

Lin, S. -P. ^{[2
,7
,8
]}

Hsu, C. -H. ^{[7
]}

Chew, S. -R. ^{[2
]}

Su, J-W ^{[1
,9
]}

Chen, Y. -J. ^{[7
]}

Pan, C. -W. ^{[1
]}

Wang, W. ^{[2
,10
]}

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, Sch Chinese Med, Coll Chinese Med, Taichung, Taiwan

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

[6] Mackay Med Coll, Dept Med, New Taipei City, Taiwan

[7] Mackay Mem Hosp, Dept Pediat, Taipei, Taiwan

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

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

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

来源：

GENETIC COUNSELING | 2012年 / 23卷 / 02期

关键词：

11q deletion; Jacobsen syndrome; Reciprocal translocation; CRITICAL REGION; GENE FAMILY; BREAKPOINTS; ACTIVATION; PROTEIN; FLI-1; MICE;

D O I：

暂无

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

Pure distal 11g deletion without additional genomic imbalances in a female infant with Jacobsen syndrome and a de novo unbalanced reciprocal translocation: We report a neonate with pure deletion of distal 11q (11q23.3 -> qter) and Jacobsen syndrome. The patient had growth restriction, petechiae, thrombocytopenia, dilation of renal pelvis, congenital heart defects, and seizures. Array comparative genomic hybridization revealed a 15.8-Mb deletion from 11q23.3 to 11q25 without genomic imbalances in other chromosomes. Cytogenetic analysis revealed a karyotype of 46,XX,der(7)(7pter -> 7q32),der(11)(11pter -> 11q23.3::7q32 -> 7qter). The parental karyotypes were normal. This is the first report of pure distal 11q deletion without additional genomic imbalances in a patient with Jacobsen syndrome and a de novo unbalanced reciprocal translocation.

引用

页码：223 / 229

页数：7

共 21 条

[1] DNA-BINDING AND TRANSCRIPTIONAL ACTIVATION PROPERTIES OF THE EWS-FLI-1 FUSION PROTEIN RESULTING FROM THE T(1122) TRANSLOCATION IN EWING SARCOMA [J].