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Prenatal diagnosis of 5p deletion syndrome in a female fetus leading to identification of the same diagnosis in her mother.

作者信息

Macayran Nguyen Joanne, Gamble Candace, Smith Janice L, Raia Marianna, Johnson Anthony, Czerwinski Jennifer

机构信息

Division of Medical Genetics, Department of Pediatrics, University of Texas Health Science Center at Houston, Houston, TX, USA; Graduate School of Biomedical Sciences, University of Texas Health Science Center at Houston, Houston, TX, USA.

出版信息

Prenat Diagn. 2014 Nov;34(11):1115-8. doi: 10.1002/pd.4436. Epub 2014 Aug 6.

DOI:10.1002/pd.4436
PMID:24933341
Abstract
摘要

相似文献

1
Prenatal diagnosis of 5p deletion syndrome in a female fetus leading to identification of the same diagnosis in her mother.一名女性胎儿的5p缺失综合征的产前诊断，导致在其母亲身上确诊相同病症。
Prenat Diagn. 2014 Nov;34(11):1115-8. doi: 10.1002/pd.4436. Epub 2014 Aug 6.
2
Prenatal diagnosis of minute 5p- deletion: a cytogenetic problem in detection.5p微小缺失的产前诊断：检测中的细胞遗传学问题
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[Prenatal diagnosis of the cri-du-chat syndrome in the case of balanced 5p--; 18p+ translocation in the mother].[母亲为平衡型5p--; 18p+易位情况下猫叫综合征的产前诊断]
Genetika. 1981;17(7):1304-8.
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Cri-du-chat syndrome: clinical profile and prenatal diagnosis.猫叫综合征：临床特征与产前诊断
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Partial translocation of NOR and its activity in a balanced carrier and in her cri-du-chat fetus.核仁组织区（NOR）的部分易位及其在平衡携带者及其猫叫综合征胎儿中的活性。
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Prenatal diagnosis of 5p deletion syndrome following abnormally low maternal serum human chorionic gonadotrophin.孕妇血清人绒毛膜促性腺激素水平异常降低后对5p缺失综合征的产前诊断
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Prenatal diagnosis of 5p-.
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Prenatal diagnosis of Cri du Chat syndrome: four cases report.
J Matern Fetal Neonatal Med. 2012 Dec;25(12):2799. doi: 10.3109/14767058.2012.704452. Epub 2012 Jul 10.
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Prenatal diagnosis of Cri-du chat syndrome following high maternal serum human chorionic gonodotrophin and ventricular septal defect.高母体血清人绒毛膜促性腺激素及室间隔缺损后13三体综合征的产前诊断
Prenat Diagn. 2009 Sep;29(9):914. doi: 10.1002/pd.2288.
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Prenatal diagnosis of cri du chat syndrome with encephalocele.伴有脑膨出的猫叫综合征的产前诊断
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Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature.通过单核苷酸多态性阵列进行猫叫综合征的产前诊断：12例报告及文献复习
Mol Cytogenet. 2019 Dec 9;12:49. doi: 10.1186/s13039-019-0462-0. eCollection 2019.
2
5p deletions: Current knowledge and future directions.5号染色体缺失：当前认知与未来方向
Am J Med Genet C Semin Med Genet. 2015 Sep;169(3):224-38. doi: 10.1002/ajmg.c.31444. Epub 2015 Aug 3.