INTERSTITIAL DUPLICATION 19P

被引：14

作者：

STRATTON, RF

DUPONT, BR

OLSEN, AS

FERTITTA, A

HOYER, M

MOORE, CM

机构：

[1] UNIV TEXAS,HLTH SCI CTR,DEPT CELLULAR & STRUCT BIOL,SAN ANTONIO,TX 78284

[2] LAWRENCE LIVERMORE NATL LAB,DIV BIOTECHNOL & BIOMED RES,LIVERMORE,CA

[3] WILFORD HALL USAF MED CTR,DEPT PEDIAT,LACKLAND AFB,TX 78236

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 57卷 / 04期

关键词：

DUPLICATION; SHORT ARM; CHROMOSOME; 19; P13.13; P13.2; CONGENITAL HEART DEFECTS; VSD; ASD; MIDLINE FACIAL ANOMALIES;

D O I：

10.1002/ajmg.1320570409

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a 9-month-old girl with an interstitial duplication of 19p, developmental delay, and multiple anomalies including bifrontal prominence, obtuse frontonasal angle, short columella, additional midline philtral pillar, midline ridge on the tongue, vertical midline ridge at the mental symphysis, and a complex congenital heart defect including severe branch pulmonary artery stenosis, secundum atrial septal defect (ASD), and several ventricular septal defects (VSDs). Use of fluorescent in situ hybridization (FISH) with chromosome 19-specific probes showed a direct duplication of bands 19p13.13 and 19p13.2. (C) 1995 Wiley-Liss, Inc.

引用

页码：562 / 564

页数：3

共 6 条

[1]

BORGAONKAR DI, 1994, CHROMOSOMAL VARIATIO, P668

[2]

BYRNE JLB, 1980, AM J HUM GENET, V32, pA64

[3]

DUPONT BR, 1994, J CELL BIOCH A S, V18, P202

[4] CHROMOSOME PREPARATIONS OF LEUKOCYTES CULTURED FROM HUMAN PERIPHERAL BLOOD [J].