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

[1] PALLISTER KILLIAN MOSAIC TETRASOMY 12P SYNDROME - ANOTHER PRENATALLY DIAGNOSED CASE
BRESSON, JL
ARBEZGINDRE, F
PELTIE, J
GOUGET, A
[J]. PRENATAL DIAGNOSIS, 1991, 11 (04) : 271 - 275
[2] BUTLER N, 1962, LANCET, V1, P659
[3] PATTERNS OF MALFORMATION IN CHILDREN WITH CONGENITAL DIAPHRAGMATIC DEFECTS
CUNNIFF, C
JONES, KL
JONES, MC
[J]. JOURNAL OF PEDIATRICS, 1990, 116 (02) : 258 - 261
[4] PALLISTER-KILLIAN SYNDROME - ADDITIONAL MANIFESTATIONS OF CLEFT-PALATE AND SACRAL APPENDAGE
MCLEOD, DR
WESSELMAN, LR
HOAR, DI
[J]. JOURNAL OF MEDICAL GENETICS, 1991, 28 (08) : 541 - 543
[5] Pallister P D, 1977, Birth Defects Orig Artic Ser, V13, P103
[6] MOSAIC ISOCHROMOSOME-12P
PAULI, RM
ZEIER, RA
SEKHON, GS
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1987, 27 (02): : 291 - 294
[7] TISSUE-SPECIFICITY AND STABILITY OF MOSAICISM IN PALLISTER-KILLIAN +I(12P) SYNDROME - RELEVANCE FOR PRENATAL-DIAGNOSIS
PRIEST, JH
RUST, JM
FERNHOFF, PM
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 42 (06): : 820 - 824
[8] TETRASOMY 12P (PALLISTER-KILLIAN SYNDROME)
SCHINZEL, A
[J]. JOURNAL OF MEDICAL GENETICS, 1991, 28 (02) : 122 - 125
[9] PALLISTER-KILLIAN SYNDROME - CHARACTERIZATION OF THE ISOCHROMOSOME-12P BY FLUORESCENT INSITU HYBRIDIZATION
SPELEMAN, F
LEROY, JG
VANROY, N
DEPAEPE, A
SUIJKERBUIJK, R
BRUNNER, H
LOOIJENGA, L
VERSCHRAEGENSPAE, MR
ORYE, E
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 41 (03): : 381 - 387
[10] Teschler-Nicola M, 1981, SYND IDENT, V7, P6

← 1 2 →