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Fetal t(5p;21q) misdiagnosed as monosomy 21: a plea for in situ hybridization studies.

作者信息

Gill P, Uhrich S, Disteche C, Cheng E

机构信息

Department of Obstetrics and Gynecology, University of Washington Medical Center, Seattle.

出版信息

Am J Med Genet. 1994 Oct 1;52(4):416-8. doi: 10.1002/ajmg.1320520405.

DOI:10.1002/ajmg.1320520405
PMID:7747753
Abstract

We report a case of 45,XY,-5,-21,+der (5) t(5;21) (p13 or p14;q11.2 or q21) that was prenatally misdiagnosed as complete monosomy 21 and terminated at 24 weeks of gestation. Subsequent fluorescence in situ hybridization studies with a chromosome 21 painting probe documented the cryptic unbalanced translocation.

摘要

相似文献

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引用本文的文献

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Mol Cytogenet. 2018 Aug 1;11:43. doi: 10.1186/s13039-018-0390-4. eCollection 2018.
2
Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient.一名无精子症患者中插入22号染色体的21号染色体发生双缺失。
Clin Case Rep. 2015 Sep;3(9):757-61. doi: 10.1002/ccr3.313. Epub 2015 Aug 20.
3
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.
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