The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangements
The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangements
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DOI：
10.1002/pd.279
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发表时间：
2002-02-01
影响因子：
3
通讯作者：
Shaffer, LG
中科院分区：
文献类型：
--
作者：
McGowan, KD;Weiser, JJ;Shaffer, LG
我们报告一个胎儿，经胎盘穿刺发现der（14，14）（q10：q10），其父亲的14号染色体同二体性。妊娠并发严重羊水过多和羊水甲胎蛋白（AFP）升高。该婴儿表现出与父亲单亲二体（UPD）一致的特征，包括出生后生长迟缓。呼吸功能差，进食困难，还有肥厚型心肌病的迹象。目前的情况下，除了其他报告的情况下，UPD涉及平衡近端着丝粒重排，支持产前检测罗伯逊易位和等染色体的UPD测试。版权所有（C）2002约翰威利父子有限公司
We report the finding of paternal isodisomy for chromosome 14 in a fetus found to have a der(14,14)(q10:q10) by amniocentesis. The pregnancy was complicated by severe polyhydramnios and elevated amniotic fluid alpha-fetoprotein (AFP). The infant showed features consistent with paternal Uniparental disomy (UPD) including postnatal growth retardation. poor respiratory function, feeding difficulties, and evidence of hypertrophic cardiomyopathy. The present case, in addition to other reported cases of UPD involving balanced acrocentric rearrangements, supports testing for UPD in prenatally detected Robertsonian translocations and isochromosomes. Copyright (C) 2002 John Wiley Sons, Ltd.