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19号染色体镶嵌三体综合征

Mosaic trisomy 19 syndrome.

作者信息

Chen H, Yu C W, Wood M J, Landry K

出版信息

Ann Genet. 1981;24(1):32-3.

PMID:6971614
Abstract

A stillborn male infant with mosaic trisomy 19 (46,XY/47,XY,+19) is reported. The prenatal ultrasound revealed polyhydramnios, edema of the fetal head and abdominal ascites. The clinical features of the proband include hydrops, epicanthal fold, hypertelorism, flat nasal bridge, short nose, small mouth, low-set and malformed ears, narrow meati, short neck with excessive skin, short chest, protuberant abdomen, mild relative shortening of the proximal portion of the extremities, spoon-shaped nails, Simian lines and club feet. These features are compared to two earlier reports of trisomy 19q syndrome.

摘要

报道了一名患有19号染色体三体嵌合体(46,XY/47,XY,+19)的死产男婴。产前超声显示羊水过多、胎儿头部水肿和腹腔积液。先证者的临床特征包括水肿、内眦赘皮、眼距增宽、鼻梁扁平、鼻子短小、嘴巴小、耳朵低位且畸形、耳道狭窄、颈部短且皮肤过多、胸部短、腹部突出、四肢近端轻度相对缩短、匙状指甲、猿线和马蹄内翻足。将这些特征与之前两份关于19q三体综合征的报告进行了比较。

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