Prenatal diagnosis of partial trisomy 12q: clinical presentations and outcome
Prenatal diagnosis of partial trisomy 12q: clinical presentations and outcome
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部分 12q 三体性的产前诊断：临床表现和结果
DOI：
10.1002/pd.1164
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发表时间：
2005
影响因子：
3
通讯作者：
Y. Soong
中科院分区：
文献类型：
--
作者：
H. Peng;Tzu;Ding;Shuenn;Y. Soong
我们报告一名孕妇，其胎儿产前诊断为46，XY，der（4）t（4;12）（q35.1; q21.2）。这种缺陷是由于父源平衡易位t（4;12）（q35.1; q21.2）的不平衡分离所致。产前超声检查发现边缘性脑室扩大，颈部褶皱增厚，心包积液，关节弯曲，单脐动脉和小阴茎。全染色体涂染探针荧光原位杂交（FISH）和基于微阵列的比较基因组杂交分析进一步证实了末端12 q的染色体获得。这名妇女在孕龄20周时终止了妊娠。与先前报道的病例相比，先证者具有12 q部分三体的表型共同特征，包括异常的面部外观和多种异常。此外，该病例有以前未报告的表型，如关节弯曲、单脐动脉和小阴茎。关于12 q部分三体的结局，携带12 q24远端三体的胎儿有很好的机会延长出生后存活。相反，涉及大量12 q的三体病例可能在产前或出生后几天内死亡。版权所有© 2005年约翰威利父子有限公司。
We present a pregnant woman with a fetus prenatally diagnosed as 46, XY,der(4) t(4;12) (q35.1; q21.2). This defect resulted from the unbalanced segregation of a paternal balanced translocation, t(4;12) (q35.1; q21.2). Prenatal ultrasound revealed borderline ventriculomegaly, a thick nuchal fold, pericardial effusion, arthrogryposis, a single umbilical artery, and micropenis. Fluorescence in situ hybridization (FISH) with whole chromosome painting probe and microarray‐based comparative genomic hybridization analysis further confirmed chromosomal gain of terminal 12q. The woman had her pregnancy terminated at 20 weeks of gestational age. When compared with previously reported cases, the proband had characteristics common to the phenotypes of partial trisomy 12q, including an abnormal facial appearance and multiple anomalies. Additionally, this case had previously unreported phenotypes, such as arthrogryposis, a single umbilical artery, and a micropenis. Regarding the outcome of partial trisomy 12q, the fetuses carrying trisomies distal to 12q24 have a good chance of extended postnatal survival. In contrast, the cases with trisomies involving a larger amount of 12q likely die prenatally or within a few days after birth. Copyright © 2005 John Wiley & Sons, Ltd.