PALLISTER-KILLIAN SYNDROME DIAGNOSED BY CHORIONIC VILLUS SAMPLING

被引：17

作者：

SHARLAND, M ^{[1
]}

HILL, L ^{[1
]}

PATEL, R ^{[1
]}

PATTON, M ^{[1
]}

机构：

[1] ST GEORGE HOSP,SCH MED,DEPT OBSTET & GYNAECOL,LONDON SW17 0RE,ENGLAND

来源：

PRENATAL DIAGNOSIS | 1991年 / 11卷 / 07期

关键词：

FETAL HYDROPS; PALLISTER-KILLIAN SYNDROME; CHORIONIC VILLUS SAMPLING;

D O I：

10.1002/pd.1970110712

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The first prenatal diagnosis of Pallister-Killian syndrome by chorionic villus sampling is presented. Fetal hydrops was noted on ultrasound in early pregnancy, and the karyotype revealed isochromosome 12p mosaicism.

引用

页码：477 / 479

页数：3

共 8 条

[1]

GILGENKRANTZ S, 1985, CLIN GENET, V28, P495

[2]

HUNTER A G W, 1986, American Journal of Human Genetics, V39, pA117

[3] PRENATAL-DIAGNOSIS OF TETRASOMY-21 [J].

LOPES, V ;

MAK, E ;

WYATT, PR .

PRENATAL DIAGNOSIS, 1985, 5 (03) :233-235

[4] ISOCHROMOSOME 12P MOSAICISM (PALLISTER MOSAIC ANEUPLOIDY OR PALLISTER-KILLIAN SYNDROME) - REPORT OF 11 CASES [J].

REYNOLDS, JF ;

DANIEL, A ;

KELLY, TE ;

GOLLIN, SM ;

STEPHAN, MJ ;

CAREY, J ;

ADKINS, WN ;

WEBB, MJ ;

CHAR, F ;

JIMENEZ, JF ;

OPITZ, JM .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1987, 27 (02) :257-274

[5] PRENATAL-DIAGNOSIS OF PALLISTER-KILLIAN SYNDROME [J].

SOUKUP, S ;

NEIDICH, K .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 35 (04) :526-528

[6]

STEINBACH P, 1987, CLIN GENET, V32, P1

[7] MOSAIC TETRASOMY 12P - 4 NEW CASES, AND CONFIRMATION OF THE CHROMOSOMAL ORIGIN OF THE SUPERNUMERARY CHROMOSOME IN ONE OF THE ORIGINAL PALLISTER-MOSAIC SYNDROME CASES [J].

WARBURTON, D ;

ANYANEYEBOA, K ;

FRANCKE, U .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1987, 27 (02) :275-283

[8]

WENGER SL, 1988, CLIN GENET, V34, P181

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