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Prenatal detection of Pierre Robin sequence with deletion Xp and additional trisomy 14q by telomere screening.

作者信息

Gerard-Blanluet M, Pipiras E, Levaillant J M, Joye N, Koubi V, Kanafani S, Vergnaud A, Verloes A, Gonzales M, Jeny R, Benzacken B

出版信息

Prenat Diagn. 2007 Nov;27(11):1062-3. doi: 10.1002/pd.1818.

DOI:10.1002/pd.1818
PMID:17705236
Abstract
摘要

相似文献

1
Prenatal detection of Pierre Robin sequence with deletion Xp and additional trisomy 14q by telomere screening.
Prenat Diagn. 2007 Nov;27(11):1062-3. doi: 10.1002/pd.1818.
2
Prenatal diagnosis of partial trisomy 14q (14q31.1-->qter) and partial monosomy 5p (5p13.2-->pter) associated with polyhydramnios, short limbs, micropenis and brain malformations.与羊水过多、四肢短小、小阴茎和脑畸形相关的14q部分三体(14q31.1→qter)和5p部分单体(5p13.2→pter)的产前诊断。
Genet Couns. 2009;20(3):281-8.
3
Pierre-Robin syndrome: a case report.皮埃尔-罗宾综合征:一例病例报告。
Arch Gynecol Obstet. 2008 Jan;277(1):95-8. doi: 10.1007/s00404-007-0405-6. Epub 2007 Jul 6.
4
Overlap of Patau and Pierre Robin syndromes along with abnormal metabolism: an interesting case study.帕陶综合征与皮埃尔·罗宾综合征重叠伴代谢异常:一项有趣的病例研究。
J Genet. 2014 Dec;93(3):865-8. doi: 10.1007/s12041-014-0452-2.
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Trisomy 18 fetuses with cystic hygroma linked to positive maternal serum Down's syndrome Triple test screening result.患有囊性水瘤的18三体胎儿与母亲血清唐氏综合征三联试验筛查结果呈阳性有关。
J Med Screen. 2005;12(4):203. doi: 10.1258/096914105775220651.
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[Complete trisomy 22].
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Cryptic subtelomeric deletion plus inverted duplication at chromosome 18q in a fetus: molecular delineation by multicolor banding.胎儿18号染色体长臂隐匿性亚端粒缺失并倒位重复:多色带技术的分子描绘
Prenat Diagn. 2009 Nov;29(11):1058-60. doi: 10.1002/pd.2332.
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Prenatal diagnosis of partial trisomy 3q (3q27.3→qter) and partial monosomy 14q (14q31.3→qter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible joints.父源部分三体 3q(3q27.3→qter)和部分单体 14q(14q31.3→qter)合并胎儿肌张力低下、关节挛缩、脊柱侧凸和关节过度伸展的产前诊断。
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引用本文的文献

1
16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance.与具有不完全外显率的非综合征性皮埃尔·罗宾序列相关的16p13.3重复
Mol Cytogenet. 2014 Nov 25;7(1):76. doi: 10.1186/s13039-014-0076-5. eCollection 2014.