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Is monosomy 21 rare? Seven early miscarriages including one mosaic 45,XX,-21/44,X,-21 in a single study population.

作者信息

Hardy Philip, Bryan Jennifer, Hardy Roderick, Lennon Patrick A, Hardy Kathy

机构信息

Cyto Labs Pty. Ltd. Perth, Australia.

出版信息

Am J Med Genet A. 2012 Aug;158A(8):2050-2. doi: 10.1002/ajmg.a.35462. Epub 2012 Jun 29.

DOI:10.1002/ajmg.a.35462
PMID:22753013
Abstract
摘要

相似文献

1
Is monosomy 21 rare? Seven early miscarriages including one mosaic 45,XX,-21/44,X,-21 in a single study population.
Am J Med Genet A. 2012 Aug;158A(8):2050-2. doi: 10.1002/ajmg.a.35462. Epub 2012 Jun 29.
2
Mosaic trisomy 21/monosomy 21 in a living female infant.一名存活女婴的21号染色体镶嵌三体/单体现象。
Cytogenet Genome Res. 2009;125(1):26-32. doi: 10.1159/000218745. Epub 2009 Jul 14.
3
Complete monosomy mosaic of chromosome 21: case report and review of literature.21 号染色体完全单体性嵌合体：病例报告及文献复习。
Gene. 2012 Dec 1;510(2):175-9. doi: 10.1016/j.gene.2012.08.041. Epub 2012 Sep 8.
4
A rare case of monosomy 18p: translocation between chromosomes 18 and 21.18号染色体短臂单体的罕见病例：18号与21号染色体之间的易位。
Genet Couns. 2011;22(2):227-31.
5
Prenatal detection of full monosomy 21 in a fetus with increased nuchal translucency: molecular cytogenetic analysis and review of the literature.
J Obstet Gynaecol Res. 2010 Apr;36(2):435-40. doi: 10.1111/j.1447-0756.2009.01140.x.
6
A clonal dic(16;21)(p13.1;p11.2)del(16)(q11.1), with gains of several chromosomes and monosomy 21, in a case of splenic hamartoma: evidence for its neoplastic, not hamartomatous, origin.在一例脾错构瘤中发现一种克隆性dic(16;21)(p13.1;p11.2)del(16)(q11.1)，伴有多条染色体增加及21号染色体单体性，提示其起源为肿瘤性而非错构瘤性。
Cancer Genet Cytogenet. 2005 Mar;157(2):160-3. doi: 10.1016/j.cancergencyto.2004.08.011.
7
Parental Origin of the Retained X Chromosome in Monosomy X Miscarriages and Ongoing Pregnancies.单体型 X 流产和持续妊娠中保留 X 染色体的亲本来源。
Fetal Diagn Ther. 2019;45(2):118-124. doi: 10.1159/000480499. Epub 2017 Oct 5.
8
A live-born child with a mosaic chromosomal pattern of either monosomy 21 or trisomy 4 in different embryonal germ layers.
Prenat Diagn. 2010 Jan;30(1):86-8. doi: 10.1002/pd.2415.
9
"Compensatory" uniparental disomy of chromosome 21 in two cases.两例21号染色体的“代偿性”单亲二体。
J Med Genet. 1994 Jul;31(7):534-40. doi: 10.1136/jmg.31.7.534.
10
Additional studies warranted to confirm monosomy 21.需要进行更多研究以证实21号染色体单体性。
Prenat Diagn. 2002 Feb;22(2):160-1. doi: 10.1002/pd.244.

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Clinical Insights Regarding the Targeted Chromosomal Region for Mosaicism and Aneuploidy in Embryos in IVF Treatment and Literature Review.体外受精治疗中胚胎嵌合体和非整倍体靶向染色体区域的临床见解及文献综述
Diagnostics (Basel). 2025 May 29;15(11):1375. doi: 10.3390/diagnostics15111375.
2
Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development.一名具有畸形特征、肝肿大、心肌增厚和精神运动发育迟缓的患者，因新发不平衡t(12;21)易位导致近端21q缺失。
Mol Cytogenet. 2016 Feb 4;9:11. doi: 10.1186/s13039-016-0220-5. eCollection 2016.
3
1(st) trimester miscarriage: four decades of study.
1 （st） trimester miscarriage：four decades of study. **译文**：1 （st） 孕期流产：四十年的研究。
Transl Pediatr. 2015 Apr;4(2):189-200. doi: 10.3978/j.issn.2224-4336.2015.03.05.
4
Monosomy 21 seen in live born is unlikely to represent true monosomy 21: a case report and review of the literature.活产中所见的21号染色体单体不太可能代表真正的21号染色体单体：一例病例报告及文献复习
Case Rep Genet. 2014;2014:965401. doi: 10.1155/2014/965401. Epub 2014 Feb 4.