双绒毛膜双羊膜囊双胎妊娠中猫叫综合征的不一致情况。 - Suppr

Discordance for Cri du Chat Syndrome in a dichorionic-diamniotic twin pregnancy.

作者信息

González-Comadran Mireia, Hernández Sánchez José Luís, Rueda Carolina, Ferriols Elena, Prat Maria, Rubio Ricardo, Carreras Ramón

机构信息

Department of Obstetrics and Gynecology, Hospital del Mar, Parc de Salut Mar de Barcelona, Spain.

出版信息

Case Rep Womens Health. 2015 Jul 29;7:5-7. doi: 10.1016/j.crwh.2015.07.003. eCollection 2015 Jul.

DOI:10.1016/j.crwh.2015.07.003

PMID:29629308

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5886005/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/969a/5886005/97909e4c5cb9/gr1.jpg

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Discordance for Cri du Chat Syndrome in a dichorionic-diamniotic twin pregnancy.双绒毛膜双羊膜囊双胎妊娠中猫叫综合征的不一致情况。

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[A de novo partial 5p deletion and cryptic 18p duplication detected by SNP-Array in a boy featuring Cri du Chat syndrome].[通过单核苷酸多态性阵列（SNP-Array）在一名患有猫叫综合征的男孩中检测到的新发5p部分缺失和隐匿性18p重复]

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A three-generation family with terminal microdeletion involving 5p15.33-32 due to a whole-arm 5;15 chromosomal translocation with a steady phenotype of atypical cri du chat syndrome.一个三代家族，因5号与15号染色体全臂易位导致5p15.33 - 32末端微缺失，具有非典型猫叫综合征的稳定表型。

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Prenatal diagnosis of cri du chat (5p-) syndrome in association with isolated moderate bilateral ventriculomegaly.伴有孤立性中度双侧脑室扩大的猫叫综合征（5p-综合征）的产前诊断。

Prenat Diagn. 2002 Jan;22(1):64-6. doi: 10.1002/pd.243.

Unusual ocular findings in an infant with cri-du-chat syndrome.患有猫叫综合征婴儿的异常眼部表现。

J Med Genet. 1983 Aug;20(4):304-7. doi: 10.1136/jmg.20.4.304.

Fetal choroid plexus cysts in association with cri du chat (5p-) syndrome.

Am J Obstet Gynecol. 1993 Dec;169(6):1614-5. doi: 10.1016/s0002-9378(11)90448-7.

A systematic review of the oral and craniofacial manifestations of cri du chat syndrome.猫叫综合征口腔和颅面部表现的系统评价

Clin Anat. 2016 Jul;29(5):555-60. doi: 10.1002/ca.22654. Epub 2015 Dec 21.

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

Am J Perinatol. 2005 Oct;22(7):351-2. doi: 10.1055/s-2005-871656.

Molecular approach to analyzing the human 5p deletion syndrome, cri du chat.分析人类5p缺失综合征（猫叫综合征）的分子方法。

Somat Cell Mol Genet. 1985 May;11(3):267-76. doi: 10.1007/BF01534683.

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Selective termination in dichorionic twins discordant for congenital defect.选择性终止在先天性缺陷不一致的双绒毛膜双胞胎中。

Eur J Obstet Gynecol Reprod Biol. 2012 Mar;161(1):8-11. doi: 10.1016/j.ejogrb.2011.11.024. Epub 2011 Dec 15.

Prenatal diagnosis of Cri-du chat syndrome following high maternal serum human chorionic gonodotrophin and choroid plexus cysts.孕妇血清人绒毛膜促性腺激素水平升高及脉络丛囊肿后13号染色体短臂缺失综合征的产前诊断

Prenat Diagn. 2009 May;29(5):536-7. doi: 10.1002/pd.2224.

A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.一名使用全基因组阵列比较基因组杂交检测到涉及5p15.2和3p24.3 - 25的新生隐匿性微缺失的患者，表现出变异型猫叫综合征表型和自闭症谱系障碍。

Clin Genet. 2005 Apr;67(4):341-51. doi: 10.1111/j.1399-0004.2005.00406.x.

High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization.利用阵列比较基因组杂交技术对猫叫综合征基因型-表型关系进行高分辨率图谱绘制。

Am J Hum Genet. 2005 Feb;76(2):312-26. doi: 10.1086/427762. Epub 2005 Jan 4.

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

Prenat Diagn. 2003 Jul;23(7):572-4. doi: 10.1002/pd.645.

Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome.δ-连环蛋白（CTNND2）半合子不足与猫叫综合征中的严重智力障碍相关。

Genomics. 2000 Jan 15;63(2):157-64. doi: 10.1006/geno.1999.6090.

Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome.5号染色体短臂的分子与表型定位：猫叫综合征关键区域的亚定位

Hum Mol Genet. 1994 Feb;3(2):247-52. doi: 10.1093/hmg/3.2.247.

The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features.猫叫综合征：流行病学、细胞遗传学及临床特征

Hum Genet. 1978 Nov 16;44(3):227-75. doi: 10.1007/BF00394291.

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Discordance for Cri du Chat Syndrome in a dichorionic-diamniotic twin pregnancy.

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