PRENATAL-DIAGNOSIS OF 48,XYY,+21 ASCERTAINED THROUGH ULTRASOUND ANOMALIES

被引：4

作者：

GOLLOP, TR ^{[1
]}

NACCACHE, NF ^{[1
]}

AULERBITTENCOURT, E ^{[1
]}

HAUSCHILD, D ^{[1
]}

EIGIER, A ^{[1
]}

ZVEIBIL, DK ^{[1
]}

机构：

[1] HOSP ISRAELITA ALBERT EINSTEIN,ANAT PATOL LAB,SAO PAULO,BRAZIL

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 39卷 / 01期

关键词：

CHORIONIC VILLUS SAMPLING; DOWN SYNDROME; NUCHAL EDEMA;

D O I：

10.1002/ajmg.1320390116

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

During a routine ultrasound study on a fetus at 21 weeks, nuchal edema was noted. At 21 weeks, repeat ultrasound study at our unit showed scalp and neck edema and a femur length/biparietal diameter ratio below the mean. Transabdominal chorionic villus sampling identified a 48.XYY, +21 chromosome constitution. The fetus had normal internal/external genitalia and signs of Down syndrome.

引用

页码：76 / 77

页数：2

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