DIAPHRAGMATIC-HERNIA IN TETRASOMY-12P MOSAICISM

被引：34

作者：

BERGOFFEN, J

PUNNETT, H

CAMPBELL, TJ

ROSS, AJ

RUCHELLI, E

ZACKAI, EH

机构：

[1] CHILDRENS HOSP PHILADELPHIA, DEPT SURG, PHILADELPHIA, PA 19104 USA

[2] CHILDRENS HOSP PHILADELPHIA, DEPT PATHOL, PHILADELPHIA, PA 19104 USA

[3] ST CHRISTOPHERS HOSP CHILDREN, DEPT PEDIAT, PHILADELPHIA, PA 19133 USA

[4] ST CHRISTOPHERS HOSP CHILDREN, DEPT LABS, PHILADELPHIA, PA 19133 USA

[5] COOPER HOSP UNIV MED CTR, DEPT PEDIAT, CAMDEN, NJ USA

来源：

JOURNAL OF PEDIATRICS | 1993年 / 122卷 / 04期

关键词：

D O I：

10.1016/S0022-3476(05)83546-2

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Twelve infants with diaphragmatic hernias plus other anomalies who had mosaicism for tetrasomy isochromosome 12p (Pallister-Killian syndrome) are reviewed. A newborn infant with a diaphragmatic hernia plus dysmorphic features and a normal peripheral blood karyotype should have chromosome analysis performed on fibroblasts or bone marrow.

引用

页码：603 / 606

页数：4

共 14 条

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[13] PALLISTER-KILLIAN SYNDROME - AN UPDATE OF A CLINICAL CASE
WYATT, PR
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1988, 29 (01): : 229 - 229
[14] YOUNG ID, 1989, ANN GENET-PARIS, V32, P62

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