TRISOMY 16Q13-]QTER IN A INFANT FROM A T(11-16)(Q25-Q13) TRANSLOCATION-CARRIER FATHER
TRISOMY 16Q13-]QTER IN A INFANT FROM A T(11-16)(Q25-Q13) TRANSLOCATION-CARRIER FATHER
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DOI：
10.1007/bf00286525
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发表时间：
1984-01-01
期刊：
影响因子：
5.3
通讯作者：
FUJITA, H
中科院分区：
文献类型：
--
作者：
HATANAKA, K;OZAKI, M;FUJITA, H
一名女婴与16 q三体导致父系遗传平衡易位的描述和比较与5个以前报道的情况下。所有的婴儿都是低出生体重，在1年内死亡，只有一个例外。本病例之剖检结果显示有心房中隔缺损、单左肺叶、肝分叶异常、胆囊发育不全及前庭瘘管。
A female infant with 16q trisomy resulting from a paternally inherited balanced translocation is described and compared with five previously reported cases. All the babies were of low birth weight and expired within 1 year, with only one exception. Necropsy of the present case revealed atrial septal defect, single left lobe of the lung, anomalous lobulation of the liver, agenesis of the gall bladder, and anovestibular fistula.