Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients
Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients
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DOI：
10.1136/jmg.38.2.86
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发表时间：
2001-02-01
影响因子：
4
通讯作者：
Wollmann, HA
中科院分区：
文献类型：
--
作者：
Eggermann, T;Mergenthaler, S;Wollmann, HA
单亲二体性（UPD）和身材矮小的关联已被报道为不同的染色体和在几个条件。因此，我们调查了一个队列的21例患者提到，因为宫内和出生后生长迟缓的UPD的染色体2，7，9，14，16，20。短串联重复序列分型显示母源UPD 14例，母源UPD 20例。在第一个病例中，检测到间质性UPD（14），生长迟缓的新生儿显示出与推定的“母体UPD（14）综合征”共同的一些其他临床体征。母亲UPD（20）患者表现出轻微的特征。然而，由于这只是第二个母亲UPD（20）的情况下，它是太早描绘一个特定的综合征，这种体质的作用，在增长仍有待调查。我们的数据表明，在生长迟缓患者中寻找UPD是获得更多关于UPD在生长迟缓中作用的信息的有用方法。根据我们的研究结果，一般考虑和UPD测试的迹象进行了讨论。
The association of uniparental disomy (UPD) and short stature has been reported for different chromosomes and in several conditions. Therefore, we investigated a cohort of 21 patients referred because of intrauterine and postnatal growth retardation for UPD of chromosomes 2, 7, 9, 14, 16, and 20. Typing of short tandem repeats showed maternal UPD(14) and maternal UPD(20) in two cases. In the first case, an interstitial UPD(14) was detected and the growth retarded newborn showed some additional clinical signs in common with the putative "maternal UPD(14) syndrome". The maternal UPD(20) patient showed minor features. However, since it is only the second maternal UPD(20) case it is too early to delineate a specific syndrome and the role of this constitution in growth remains to be investigated. Our data suggest that searching for UPD in growth retarded patients is a helpful approach to getting more information on the role of UPD in growth retardation. Based on our results, general considerations and indications for UPD testing are discussed.