CHONDRODYSPLASIA PUNCTATA IN AN INFANT WITH DUPLICATION 16P DUE TO A 7-16 TRANSLOCATION

被引：25

作者：

HUNTER, AGW

RIMOIN, DL

KOCH, UM

MACDONALD, GJ

COX, DM

LACHMAN, RS

ADOMIAN, G

机构：

[1] UNIV OTTAWA,DEPT PEDIAT,OTTAWA K1N 6N5,ONTARIO,CANADA

[2] UNIV CALIF LOS ANGELES,LOS ANGELES CTY HARBOR MED CTR,DIV MED GENET,TORRANCE,CA 90509

[3] UNIV CALIF LOS ANGELES,LOS ANGELES CTY HARBOR MED CTR,DEPT RADIOL,TORRANCE,CA 90509

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1985年 / 21卷 / 03期

关键词：

D O I：

10.1002/ajmg.1320210320

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：581 / 589

页数：9

共 12 条

[1]

COHEN MM, 1983, AM J MED GENET, V14, P86

[2]

CURRY CJR, 1982, AM J HUM GENET, V34, pA122

[3] CHONDRODYSPLASIA PUNCTATA - RHIZOMELIC FORM - PATHOLOGIC AND RADIOLOGIC STUDIES OF 3 INFANTS [J].

GILBERT, EF ;

OPITZ, JM ;

SPRANGER, JW ;

LANGER, LO ;

WOLFSON, JJ ;

VISESKUL, C .

EUROPEAN JOURNAL OF PEDIATRICS, 1976, 123 (02) :89-109

[4]

GOLDEN NL, 1981, CLIN GENET, V19, P41

[5] X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA - REVIEW OF LITERATURE AND REPORT OF A CASE [J].

HAPPLE, R .

HUMAN GENETICS, 1979, 53 (01) :65-73

[6]

LESCHOT NJ, 1979, CLIN GENET, V16, P205

[7] WARFARIN THERAPY INITIATED DURING PREGNANCY AND PHENOTYPIC CHONDRODYSPLASIA PUNCTATA [J].

PAULI, RM ;

MADDEN, JD ;

KRANZLER, KJ ;

CULPEPPER, W ;

PORT, R .

JOURNAL OF PEDIATRICS, 1976, 88 (03) :506-508

[8]

Rimoin D. L, 1976, CLIN ORTHOP RELAT R, V114, P137

[9] TRISOMY-16P IN A LIVEBORN INFANT AND A REVIEW OF PARTIAL AND FULL TRISOMY-16 [J].

ROBERTS, SH ;

DUCKETT, DP .

JOURNAL OF MEDICAL GENETICS, 1978, 15 (05) :375-381

[10]

SHEFFIELD L, 1976, J PEDIATR, V86, P916

← 1 2 →