专题报道 |
|
|
|
|
一例染色体复杂易位致胎儿多发畸形的遗传学诊断 |
罗玉琴( ),沈敏,孙义锡,钱叶青,王丽雅,俞佳玲,胡珺洁,金帆,董旻岳*( ) |
浙江大学医学院附属妇产科医院生殖遗传科 生殖遗传教育部重点实验室, 浙江 杭州 310006 |
|
Genetic analysis of a fetus with multiple malformations caused by complex translocations of four chromosomes |
LUO Yuqin( ),SHEN Min,SUN Yixi,QIAN Yeqing,WANG Liya,YU Jialing,HU Junjie,JIN Fan,DONG Minyue*( ) |
Key Laboratory of Reproductive Genetics, Ministry of Education, Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Hangzhou 310006, China |
引用本文:
罗玉琴,沈敏,孙义锡,钱叶青,王丽雅,俞佳玲,胡珺洁,金帆,董旻岳. 一例染色体复杂易位致胎儿多发畸形的遗传学诊断[J]. 浙江大学学报(医学版), 2019, 48(4): 397-402.
LUO Yuqin,SHEN Min,SUN Yixi,QIAN Yeqing,WANG Liya,YU Jialing,HU Junjie,JIN Fan,DONG Minyue. Genetic analysis of a fetus with multiple malformations caused by complex translocations of four chromosomes. J Zhejiang Univ (Med Sci), 2019, 48(4): 397-402.
链接本文:
http://www.zjujournals.com/med/CN/10.3785/j.issn.1008-9292.2019.08.08
或
http://www.zjujournals.com/med/CN/Y2019/V48/I4/397
|
1 |
QIAN Y Q , FU X Y , WANG X Q et al. A feasible diagnostic approach for the translocation carrier from the indication of products of conception[J]. Mol Cytogenet, 2018, 11:12
doi: 10.1186/s13039-018-0362-8
|
2 |
QIAN Y Q , WANG X Q , CHEN M et al. Detection of fetal subchromosomal aberration with cell-free DNA screening led to diagnosis of parental translocation:Review of 11344 consecutive cases in a university hospital[J]. Eur J Med Genet, 2019, 62 (2): 115- 123
|
3 |
SHAFFER L G , BEJJANI B A . A cytogeneticist's perspective on genomic microarrays[J]. Hum Reprod Update, 2004, 10 (3): 221- 226
doi: 10.1093/humupd/dmh022
|
4 |
CHANTOT-BASTARAUD S , STRATMANN S , BRIOUDE F et al. Formation of upd(7)mat by trisomic rescue:SNP array typing provides new insights in chromosomal nondisjunction[J]. Mol Cytogenet, 2017, 10:28
doi: 10.1186/s13039-017-0329-1
|
5 |
FU F , DENG Q , LEI T Y et al. Clinical application of SNP array analysis in fetuses with ventricular septal defects and normal karyotypes[J]. Arch Gynecol Obstet, 2017, 296 (5): 929- 940
doi: 10.1007/s00404-017-4518-2
|
6 |
TRPCHEVSKA N , DIMOVA L , ARABADJI T et al. A family study of complex chromosome rearrangement involving chromosomes 1, 8, and 11 and its reproductive consequences[J]. J Assist Reprod Genet, 2017, 34 (5): 659- 669
doi: 10.1007/s10815-017-0893-7
|
7 |
WANG L Y , RAO X Q , LUO Y Q et al. Preimplantation genetic diagnosis and screening (PGD/S) using a semiconductor sequencing platform[J]. Hum Genomics, 2019, 13 (1): 1
|
8 |
MORRIS M L , BARONEZA J E , TEIXEEIRA P et al. Partial 1q duplications and associated phenotype[J]. Mol Syndromol, 2016, 6 (6): 297- 303
|
9 |
SHETH K , MOSS J , HYLAND S et al. The behavioral characteristics of Sotos syndrome[J]. Am J Med Genet A, 2015, 167A (12): 2945- 2956
|
10 |
WATANABE S , SHIMIZU K , OHASHI H et al. Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome[J]. Am J Med Genet A, 2016, 170A (4): 908- 917
|
11 |
POOT M , VERRIJN STUART A A , VAN DAALEN E et al. Variable behavioural phenotypes of patients with monosomies of 15q26 and a review of 16 cases[J]. Eur J Med Genet, 2013, 56 (7): 346- 350
doi: 10.1016/j.ejmg.2013.04.001
|
|
Viewed |
|
|
|
Full text
|
|
|
|
|
Abstract
|
|
|
|
|
Cited |
|
|
|
|
|
Shared |
|
|
|
|
|
Discussed |
|
|
|
|