A FURTHER PRENATAL-DIAGNOSIS OF MOSAIC TETRASOMY-12P (PALLISTER-KILLIAN SYNDROME)

被引：15

作者：

TEJADA, MI

URIBARREN, A

BRIONES, P

VILASECA, MA

机构：

[1] HOSP CRUCES,UNIDAD DIAGNOST PRENATAL,BILBAO,SPAIN

[2] INST BIOQUIM CLIN,BARCELONA,SPAIN

来源：

PRENATAL DIAGNOSIS | 1992年 / 12卷 / 06期

关键词：

PALLISTER-KILLIAN SYNDROME; MOSAIC TETRASOMY-12P; PRENATAL DIAGNOSIS;

D O I：

10.1002/pd.1970120608

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A case of mosaic tetrasomy 12p was detected in amniotic fluid cell cultures from a 28-year-old woman referred to us at 26 weeks' gestation because of hydramnios. The fetus was shown on ultrasonography to have an omphalocele and a short femur length. Labour was induced at 32 weeks. An infant with multiple congenital anomalies was delivered and died after 10 min. The diagnosis of i(12p) or Pallister-Killian syndrome was confirmed cytogenetically in fibroblast and lymphocyte cultures. Increased LDH-B activity was demonstrated in fibroblasts.

引用

页码：529 / 534

页数：6

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